Polycystic Kidney Diseases: Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance.Polycystic Kidney, Autosomal Dominant: Kidney disorders with autosomal dominant inheritance and characterized by multiple CYSTS in both KIDNEYS with progressive deterioration of renal function.TRPP Cation Channels: A subgroup of TRP cation channels that are widely expressed in various cell types. Defects are associated with POLYCYSTIC KIDNEY DISEASES.Polycystic Kidney, Autosomal Recessive: A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY.Polycystic Ovary Syndrome: A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.Kidney: Body organ that filters blood for the secretion of URINE and that regulates ion concentrations.Kidney Diseases: Pathological processes of the KIDNEY or its component tissues.Cysts: Any fluid-filled closed cavity or sac that is lined by an EPITHELIUM. Cysts can be of normal, abnormal, non-neoplastic, or neoplastic tissues.Cilia: Populations of thin, motile processes found covering the surface of ciliates (CILIOPHORA) or the free surface of the cells making up ciliated EPITHELIUM. Each cilium arises from a basic granule in the superficial layer of CYTOPLASM. The movement of cilia propels ciliates through the liquid in which they live. The movement of cilia on a ciliated epithelium serves to propel a surface layer of mucus or fluid. (King & Stansfield, A Dictionary of Genetics, 4th ed)Kidney Diseases, Cystic: A heterogeneous group of hereditary and acquired disorders in which the KIDNEY contains one or more CYSTS unilaterally or bilaterally (KIDNEY, CYSTIC).Kidney Failure, Chronic: The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION.Kidney Tubules: Long convoluted tubules in the nephrons. They collect filtrate from blood passing through the KIDNEY GLOMERULUS and process this filtrate into URINE. Each renal tubule consists of a BOWMAN CAPSULE; PROXIMAL KIDNEY TUBULE; LOOP OF HENLE; DISTAL KIDNEY TUBULE; and KIDNEY COLLECTING DUCT leading to the central cavity of the kidney (KIDNEY PELVIS) that connects to the URETER.Caroli Disease: Congenital cystic dilatation of the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). It consists of 2 types: simple Caroli disease is characterized by bile duct dilatation (ectasia) alone; and complex Caroli disease is characterized by bile duct dilatation with extensive hepatic fibrosis and portal hypertension (HYPERTENSION, PORTAL). Benign renal tubular ectasia is associated with both types of Caroli disease.Chromosomes, Human, Pair 16: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Glomerular Filtration Rate: The volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. It is considered to be equivalent to INULIN clearance.Cyst Fluid: Liquid material found in epithelial-lined closed cavities or sacs.Renal Insufficiency, Chronic: Conditions in which the KIDNEYS perform below the normal level for more than three months. Chronic kidney insufficiency is classified by five stages according to the decline in GLOMERULAR FILTRATION RATE and the degree of kidney damage (as measured by the level of PROTEINURIA). The most severe form is the end-stage renal disease (CHRONIC KIDNEY FAILURE). (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002)Liver Diseases: Pathological processes of the LIVER.Rats, Mutant Strains: Rats bearing mutant genes which are phenotypically expressed in the animals.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.Disease Progression: The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.Kidney Function Tests: Laboratory tests used to evaluate how well the kidneys are working through examination of blood and urine.Orofaciodigital Syndromes: Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.Kidney Transplantation: The transference of a kidney from one human or animal to another.Proteins: Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Kidney Tubules, Collecting: Straight tubes commencing in the radiate part of the kidney cortex where they receive the curved ends of the distal convoluted tubules. In the medulla the collecting tubules of each pyramid converge to join a central tube (duct of Bellini) which opens on the summit of the papilla.Receptors, Vasopressin: Specific molecular sites or proteins on or in cells to which VASOPRESSINS bind or interact in order to modify the function of the cells. Two types of vasopressin receptor exist, the V1 receptor in the vascular smooth muscle and the V2 receptor in the kidneys. The V1 receptor can be subdivided into V1a and V1b (formerly V3) receptors.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Proteinuria: The presence of proteins in the urine, an indicator of KIDNEY DISEASES.Hypertension, Renal: Persistent high BLOOD PRESSURE due to KIDNEY DISEASES, such as those involving the renal parenchyma, the renal vasculature, or tumors that secrete RENIN.CreatinineIothalamic Acid: A contrast medium in diagnostic radiology with properties similar to those of diatrizoic acid. It is used primarily as its sodium and meglumine (IOTHALAMATE MEGLUMINE) salts.Hematuria: Presence of blood in the urine.Hyperandrogenism: A condition caused by the excessive secretion of ANDROGENS from the ADRENAL CORTEX; the OVARIES; or the TESTES. The clinical significance in males is negligible. In women, the common manifestations are HIRSUTISM and VIRILISM as seen in patients with POLYCYSTIC OVARY SYNDROME and ADRENOCORTICAL HYPERFUNCTION.Epithelial Cells: Cells that line the inner and outer surfaces of the body by forming cellular layers (EPITHELIUM) or masses. Epithelial cells lining the SKIN; the MOUTH; the NOSE; and the ANAL CANAL derive from ectoderm; those lining the RESPIRATORY SYSTEM and the DIGESTIVE SYSTEM derive from endoderm; others (CARDIOVASCULAR SYSTEM and LYMPHATIC SYSTEM) derive from mesoderm. Epithelial cells can be classified mainly by cell shape and function into squamous, glandular and transitional epithelial cells.Organ Size: The measurement of an organ in volume, mass, or heaviness.Ciliary Motility Disorders: Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Membrane Proteins: Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.Hand-Assisted Laparoscopy: Placement of one of the surgeon's gloved hands into the ABDOMINAL CAVITY to perform manual manipulations that facilitate the laparoscopic procedures.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Chronic Disease: Diseases which have one or more of the following characteristics: they are permanent, leave residual disability, are caused by nonreversible pathological alteration, require special training of the patient for rehabilitation, or may be expected to require a long period of supervision, observation, or care. (Dictionary of Health Services Management, 2d ed)Kidney Cortex: The outer zone of the KIDNEY, beneath the capsule, consisting of KIDNEY GLOMERULUS; KIDNEY TUBULES, DISTAL; and KIDNEY TUBULES, PROXIMAL.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Multicystic Dysplastic Kidney: A nongenetic defect due to malformation of the KIDNEY which appears as a bunch of grapes with multiple renal cysts but lacking the normal renal bean shape, and the collection drainage system. This condition can be detected in-utero with ULTRASONOGRAPHY.Renal Dialysis: Therapy for the insufficient cleansing of the BLOOD by the kidneys based on dialysis and including hemodialysis, PERITONEAL DIALYSIS, and HEMODIAFILTRATION.Spermatocele: A cystic dilation of the EPIDIDYMIS, usually in the head portion (caput epididymis). The cyst fluid contains dead SPERMATOZOA and can be easily differentiated from TESTICULAR HYDROCELE and other testicular lesions.Nephrons: The functional units of the kidney, consisting of the glomerulus and the attached tubule.Kidney Tubules, Proximal: The renal tubule portion that extends from the BOWMAN CAPSULE in the KIDNEY CORTEX into the KIDNEY MEDULLA. The proximal tubule consists of a convoluted proximal segment in the cortex, and a distal straight segment descending into the medulla where it forms the U-shaped LOOP OF HENLE.Renal Insufficiency: Conditions in which the KIDNEYS perform below the normal level in the ability to remove wastes, concentrate URINE, and maintain ELECTROLYTE BALANCE; BLOOD PRESSURE; and CALCIUM metabolism. Renal insufficiency can be classified by the degree of kidney damage (as measured by the level of PROTEINURIA) and reduction in GLOMERULAR FILTRATION RATE.Hirsutism: A condition observed in WOMEN and CHILDREN when there is excess coarse body hair of an adult male distribution pattern, such as facial and chest areas. It is the result of elevated ANDROGENS from the OVARIES, the ADRENAL GLANDS, or exogenous sources. The concept does not include HYPERTRICHOSIS, which is an androgen-independent excessive hair growth.Nephrectomy: Excision of kidney.Kidney Calculi: Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE.Mice, Mutant Strains: Mice bearing mutant genes which are phenotypically expressed in the animals.TOR Serine-Threonine Kinases: A serine threonine kinase that controls a wide range of growth-related cellular processes. The protein is referred to as the target of RAPAMYCIN due to the discovery that SIROLIMUS (commonly known as rapamycin) forms an inhibitory complex with TACROLIMUS BINDING PROTEIN 1A that blocks the action of its enzymatic activity.Receptors, Cell Surface: Cell surface proteins that bind signalling molecules external to the cell with high affinity and convert this extracellular event into one or more intracellular signals that alter the behavior of the target cell (From Alberts, Molecular Biology of the Cell, 2nd ed, pp693-5). Cell surface receptors, unlike enzymes, do not chemically alter their ligands.Hypertension: Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more.Fishes, PoisonousRisk Factors: An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.Tuberous Sclerosis: Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.Albuminuria: The presence of albumin in the urine, an indicator of KIDNEY DISEASES.Signal Transduction: The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.Kidney Glomerulus: A cluster of convoluted capillaries beginning at each nephric tubule in the kidney and held together by connective tissue.Potassium Citrate: A powder that dissolves in water, which is administered orally, and is used as a diuretic, expectorant, systemic alkalizer, and electrolyte replenisher.Uromodulin: A glycosyl-phosphatidyl-inositol (GPI) - anchored membrane protein found on the thick ascending limb of the LOOP OF HENLE. The cleaved form of the protein is found abundantly in URINE.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Biological Markers: Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.Cell Proliferation: All of the processes involved in increasing CELL NUMBER including CELL DIVISION.Dogs: The domestic dog, Canis familiaris, comprising about 400 breeds, of the carnivore family CANIDAE. They are worldwide in distribution and live in association with people. (Walker's Mammals of the World, 5th ed, p1065)Oligomenorrhea: Abnormally infrequent menstruation.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Kidney Neoplasms: Tumors or cancers of the KIDNEY.Benzazepines: Compounds with BENZENE fused to AZEPINES.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Acute Kidney Injury: Abrupt reduction in kidney function. Acute kidney injury encompasses the entire spectrum of the syndrome including acute kidney failure; ACUTE KIDNEY TUBULAR NECROSIS; and other less severe conditions.Retrospective Studies: Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.Prevalence: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.Age of Onset: The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.Intracranial Aneurysm: Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)Tomography, X-Ray Computed: Tomography using x-ray transmission and a computer algorithm to reconstruct the image.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Treatment Outcome: Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.Cell Polarity: Orientation of intracellular structures especially with respect to the apical and basolateral domains of the plasma membrane. Polarized cells must direct proteins from the Golgi apparatus to the appropriate domain since tight junctions prevent proteins from diffusing between the two domains.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Renin-Angiotensin System: A BLOOD PRESSURE regulating system of interacting components that include RENIN; ANGIOTENSINOGEN; ANGIOTENSIN CONVERTING ENZYME; ANGIOTENSIN I; ANGIOTENSIN II; and angiotensinase. Renin, an enzyme produced in the kidney, acts on angiotensinogen, an alpha-2 globulin produced by the liver, forming ANGIOTENSIN I. Angiotensin-converting enzyme, contained in the lung, acts on angiotensin I in the plasma converting it to ANGIOTENSIN II, an extremely powerful vasoconstrictor. Angiotensin II causes contraction of the arteriolar and renal VASCULAR SMOOTH MUSCLE, leading to retention of salt and water in the KIDNEY and increased arterial blood pressure. In addition, angiotensin II stimulates the release of ALDOSTERONE from the ADRENAL CORTEX, which in turn also increases salt and water retention in the kidney. Angiotensin-converting enzyme also breaks down BRADYKININ, a powerful vasodilator and component of the KALLIKREIN-KININ SYSTEM.Severity of Illness Index: Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.Mice, Knockout: Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Blood Pressure: PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS.Epithelium: One or more layers of EPITHELIAL CELLS, supported by the basal lamina, which covers the inner or outer surfaces of the body.Bile Ducts: The channels that collect and transport the bile secretion from the BILE CANALICULI, the smallest branch of the BILIARY TRACT in the LIVER, through the bile ductules, the bile ducts out the liver, and to the GALLBLADDER for storage.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.Blood Urea Nitrogen: The urea concentration of the blood stated in terms of nitrogen content. Serum (plasma) urea nitrogen is approximately 12% higher than blood urea nitrogen concentration because of the greater protein content of red blood cells. Increases in blood or serum urea nitrogen are referred to as azotemia and may have prerenal, renal, or postrenal causes. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)Rats, Sprague-Dawley: A strain of albino rat used widely for experimental purposes because of its calmness and ease of handling. It was developed by the Sprague-Dawley Animal Company.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Frameshift Mutation: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.Anovulation: Suspension or cessation of OVULATION in animals or humans with follicle-containing ovaries (OVARIAN FOLLICLE). Depending on the etiology, OVULATION may be induced with appropriate therapy.Renal Blood Flow, Effective: The amount of the RENAL BLOOD FLOW that is going to the functional renal tissue, i.e., parts of the KIDNEY that are involved in production of URINE.Body Fluids: Liquid components of living organisms.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Mice, Transgenic: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.Models, Biological: Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.Sodium-Potassium-Exchanging ATPase: An enzyme that catalyzes the active transport system of sodium and potassium ions across the cell wall. Sodium and potassium ions are closely coupled with membrane ATPase which undergoes phosphorylation and dephosphorylation, thereby providing energy for transport of these ions against concentration gradients.Cells, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.Sirolimus: A macrolide compound obtained from Streptomyces hygroscopicus that acts by selectively blocking the transcriptional activation of cytokines thereby inhibiting cytokine production. It is bioactive only when bound to IMMUNOPHILINS. Sirolimus is a potent immunosuppressant and possesses both antifungal and antineoplastic properties.Nephrology: A subspecialty of internal medicine concerned with the anatomy, physiology, and pathology of the kidney.Liver: A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Renal Circulation: The circulation of the BLOOD through the vessels of the KIDNEY.Chromosomes, Human, Pair 4: A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.Metformin: A biguanide hypoglycemic agent used in the treatment of non-insulin-dependent diabetes mellitus not responding to dietary modification. Metformin improves glycemic control by improving insulin sensitivity and decreasing intestinal absorption of glucose. (From Martindale, The Extra Pharmacopoeia, 30th ed, p289)RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Follow-Up Studies: Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.Diabetic Nephropathies: KIDNEY injuries associated with diabetes mellitus and affecting KIDNEY GLOMERULUS; ARTERIOLES; KIDNEY TUBULES; and the interstitium. Clinical signs include persistent PROTEINURIA, from microalbuminuria progressing to ALBUMINURIA of greater than 300 mg/24 h, leading to reduced GLOMERULAR FILTRATION RATE and END-STAGE RENAL DISEASE.Prospective Studies: Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.Cohort Studies: Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Enalapril: An angiotensin-converting enzyme inhibitor that is used to treat HYPERTENSION and HEART FAILURE.Cyclic AMP: An adenine nucleotide containing one phosphate group which is esterified to both the 3'- and 5'-positions of the sugar moiety. It is a second messenger and a key intracellular regulator, functioning as a mediator of activity for a number of hormones, including epinephrine, glucagon, and ACTH.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Ultrasonography: The visualization of deep structures of the body by recording the reflections or echoes of ultrasonic pulses directed into the tissues. Use of ultrasound for imaging or diagnostic purposes employs frequencies ranging from 1.6 to 10 megahertz.Antihypertensive Agents: Drugs used in the treatment of acute or chronic vascular HYPERTENSION regardless of pharmacological mechanism. Among the antihypertensive agents are DIURETICS; (especially DIURETICS, THIAZIDE); ADRENERGIC BETA-ANTAGONISTS; ADRENERGIC ALPHA-ANTAGONISTS; ANGIOTENSIN-CONVERTING ENZYME INHIBITORS; CALCIUM CHANNEL BLOCKERS; GANGLIONIC BLOCKERS; and VASODILATOR AGENTS.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.Blotting, Western: Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.Cystic Fibrosis Transmembrane Conductance Regulator: A chloride channel that regulates secretion in many exocrine tissues. Abnormalities in the CFTR gene have been shown to cause cystic fibrosis. (Hum Genet 1994;93(4):364-8)Pancreatic Cyst: A true cyst of the PANCREAS, distinguished from the much more common PANCREATIC PSEUDOCYST by possessing a lining of mucous EPITHELIUM. Pancreatic cysts are categorized as congenital, retention, neoplastic, parasitic, enterogenous, or dermoid. Congenital cysts occur more frequently as solitary cysts but may be multiple. Retention cysts are gross enlargements of PANCREATIC DUCTS secondary to ductal obstruction. (From Bockus Gastroenterology, 4th ed, p4145)Mice, Inbred C57BLVasopressins: Antidiuretic hormones released by the NEUROHYPOPHYSIS of all vertebrates (structure varies with species) to regulate water balance and OSMOLARITY. In general, vasopressin is a nonapeptide consisting of a six-amino-acid ring with a cysteine 1 to cysteine 6 disulfide bridge or an octapeptide containing a CYSTINE. All mammals have arginine vasopressin except the pig with a lysine at position 8. Vasopressin, a vasoconstrictor, acts on the KIDNEY COLLECTING DUCTS to increase water reabsorption, increase blood volume and blood pressure.
Polycystic (TRPP) Associated with polycystic kidney disease. Mucolipin (TRPML) Associated with mucolipidosis type IV. No ... In group 2, there are TRPP ("P" for polycystic) and TRPML ("ML" for mucolipin). Many of these channels mediate a variety of ... The receptors are found in almost all cell types and largely localized in the cell membrane, modulating ion entry. TRP channels ... Later, TRP channels were found in vertebrates where they are ubiquitously expressed in many cell types and tissues. Most TRP ...
"Mitral valve prolapse and mitral regurgitation are common in patients with polycystic kidney disease type 1". American Journal ... Marfan syndrome or polycystic kidney disease. Other risk factors include Graves disease and chest wall deformities such as ... There are various types of MVP, broadly classified as classic and nonclassic. In its nonclassic form, MVP carries a low risk of ... of Kidney Diseases. 38 (6): 1208-16. doi:10.1053/ajkd.2001.29216. PMID 11728952. "Mitral Valve Prolapse Overview". "Pectus ...
... associates with the primary cilium and modulates renal cyst growth in congenital polycystic kidney disease. A ... Galectin-3 has varying effects in different types of cancer. One approach to cancers with high galectin-3 expression is to use ... "Galectin-3 associates with the primary cilium and modulates cyst growth in congenital polycystic kidney disease". The American ... However, as heart disease progresses, significant upregulation of galectin-3 occurs in the myocardium. Galectin-3 also may be ...
Numerous renal cysts are seen in the cystic kidney diseases, which include polycystic kidney disease and medullary sponge ... A renal cyst or kidney cyst, is a fluid collection in or on the kidney. There are several types based on the Bosniak ... Category IIF cysts have a 5-10% risk of being kidney cancer, and therefore follow-up is recommended. However, there is no ... Hyperdense cysts must be exophytic with at least 75 percent of its wall outside the kidney to allow for appropriate assessment ...
"In vivo interaction of the adapter protein CD2-associated protein with the type 2 polycystic kidney disease protein, polycystin ... Kirsch KH, Georgescu MM, Shishido T, Langdon WY, Birge RB, Hanafusa H (Feb 2001). "The adapter type protein CMS/CD2AP binds to ... Kirsch KH, Georgescu MM, Shishido T, Langdon WY, Birge RB, Hanafusa H (2001). "The adapter type protein CMS/CD2AP binds to the ... Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease. CD2AP has been shown to interact with: ...
... a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3". Hum Mol Genet. 6 (7): 1163-7. doi: ... "Entrez Gene: OFD1 oral-facial-digital syndrome 1". GeneReviews/NCBI/NIH/UW entry on Oral-Facial-Digital Syndrome Type I Alitalo ... 2003). "OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic ... 2001). "Identification of the gene for oral-facial-digital type I syndrome". Am. J. Hum. Genet. 68 (3): 569-76. doi:10.1086/ ...
Marfan syndrome, Ehlers-Danlos syndrome and autosomal dominant polycystic kidney disease are the three most common connective ... The use of CT, MRI, and assays are the most common types of CSF leak instrumental tests. Many CSF leaks do not show up on ... Degenerative spinal disc diseases cause a disc to pierce the dura mater, leading to a CSF leak. Another view of the cause of ... A spontaneous cerebrospinal fluid leak is one of several types of cerebrospinal fluid leaks and occurs due to the presence of ...
Polycystic kidney disease. 1 in 1250 Neurofibromatosis type I. 1 in 2,500 ... Examples of this type of disorder are Huntington's disease, neurofibromatosis type 1, neurofibromatosis type 2, Marfan ... sickle-cell disease, Tay-Sachs disease, Niemann-Pick disease, spinal muscular atrophy, and Roberts syndrome. Certain other ... Main article: Mitochondrial disease. This type of inheritance, also known as maternal inheritance, applies to genes encoded by ...
... is also associated with liver failure and polycystic kidney disease. The disease affects about one in 1,000,000 ... 2007). "Bile duct cyst type V (Caroli's disease): surgical strategy and results". HPB (Oxford). 9 (4): 281-4. doi:10.1080/ ... Caroli disease usually occurs in the presence of other diseases, such as autosomal recessive polycystic kidney disease, ... Family history may include kidney and liver disease due to the link between Caroli disease and ARPKD. PKHD1, the gene linked to ...
... renal tubular diseases include acute tubular necrosis and polycystic kidney disease. The nephron is the functional unit of the ... Kidney tissue Glomerulus This image shows the types of cells present in the glomerulus part of a kidney nephron. Podocytes, ... and polycystic kidney disease. Distribution of blood vessels in cortex of kidney. (Although the figure labels the efferent ... Some diseases of the nephron predominantly affect either the glomeruli or the tubules. Glomerular diseases include diabetic ...
Cairn Terriers can be affected by polycystic kidney disease. Multiple small cysts are found in the kidneys. Cysts are present ... Bull Terriers can be affected by an inherited type of renal disease caused by basement membrane disease. Protein in the urine ... Persians can be affected by polycystic kidney disease, characterized by small cysts in the kidneys. It is inherited through an ... Familial renal disease is an uncommon cause of renal failure (kidney failure) in dogs and cats. Most causes are breed-related ( ...
Other known ciliopathies include primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, ... NPHP2 is infantile type of nephropthisis and sometimes associated with situs inversus this can be explained by its relation ... end-stage kidney disease, a condition necessitating either dialysis or a kidney transplant in order to survive. Some ... Genetic Diseases of the Kidney. Academic Press. pp. 425-46. ISBN 978-0-08-092427-4. "Nephronophthisis: A Genetically Diverse ...
... and digits with polycystic kidney disease and variable involvement of the central nervous system. Orofaciodigital syndrome type ... polycystic kidney disease and polycystic liver disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some ... Rare Diseases OFD syndrome type Figuera at NIH's Office of Rare Diseases OFD syndrome type 8 at NIH's Office of Rare Diseases. ... syndrome Thurston type at NIH's Office of Rare Diseases Orofaciodigital syndrome type 2 at NIH's Office of Rare Diseases ...
"Generation of a transcriptional map for a 700-kb region surrounding the polycystic kidney disease type 1 (PKD1) and tuberous ... sclerosis type 2 (TSC2) disease genes on human chromosome 16p3.3". Genome Res. 6 (6): 525-37. doi:10.1101/gr.6.6.525. PMID ...
... autosomal dominant polycystic kidney disease, neurofibromatosis type I, Marfan syndrome, multiple endocrine neoplasia type I, ... Intracranial aneurysms may result from diseases acquired during life, or from genetic conditions. Lifestyle diseases including ... This can be because of acquired disease or hereditary factors. The repeated trauma of blood flow against the vessel wall ... 2005). Robbins and Cotran Pathologic Basis of Disease (7th ed.). China: Elsevier. ISBN 0-7216-0187-1. Brisman, JL; Song, JK; ...
"Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 ... Jakobi R, Voss H, Pyerin W (1989). "Human phosvitin/casein kinase type II. Molecular cloning and sequencing of full-length cDNA ... Vincent MJ, Abdul Jabbar M (1996). "The human immunodeficiency virus type 1 Vpu protein: a potential regulator of proteolysis ... 1994). "The human immunodeficiency virus type 1 encoded Vpu protein is phosphorylated by casein kinase-2 (CK-2) at positions ...
... autosomal dominant polycystic kidney disease and pseudoxanthoma elasticum, α1 antitrypsin deficiency and hereditary ... Ehlers-Danlos syndrome type 4, caused by mutations of the COL3A gene, leads to defective production of the collagen, type III, ... Vertebral artery dissection is one of the two types of dissection of the arteries in the neck. The other type, carotid artery ... The vertebral artery supplies the part of the brain that lies in the posterior fossa of the skull, and this type of stroke is ...
... cystic renal disease, cilia-related genes and proteins have been identified to have causal effect in polycystic kidney disease ... nephronophthisis, Senior-Loken syndrome type 5, orofaciodigital syndrome type 1 and Bardet-Biedl syndrome. Adams, M.; Smith, U ... Gunay-Aygun M (November 2009). "Liver and Kidney Disease in Ciliopathies". Am J Med Genet C Semin Med Genet. 151C (4): 296-306 ... early embryonic death (some cases) hydrocephalus (some cases) polycystic liver disease retinal degeneration (some forms) ...
... acidemia Autosomal nonsyndromic deafness otospondylomegaepiphyseal dysplasia Parkinson disease polycystic kidney disease ... types II and XI Coeliac disease HLA-DQA1 & DQB1 Ehlers-Danlos syndrome, classical, hypermobility, and Tenascin-X types ... polycystic kidney and hepatic disease 1 (autosomal recessive) (6p21.2-p12) PRICKLE4: prickle planar cell polarity protein 4 ( ... DHHC-type containing 14 The following diseases are some of those related to genes on chromosome 6: ankylosing spondylitis, HLA- ...
... polycystic kidney disease and polycystic liver disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some ... Joubert syndrome type 2 is disproportionately frequent among people of Jewish descent. Saraiva, JM; Baraitser, M (1992). " ... kidney diseases, liver diseases, skeletal deformities and endocrine (hormonal) problems. A number of mutations have been ... Joubert syndrome is one such disease. It is a member of an emerging class of diseases called ciliopathies. The underlying cause ...
... polycystin 1 contains 16 polycystic kidney disease (PKD) domains, one LDL-receptor class A domain, one C-type lectin family ... Autosomal recessive polycystic kidney disease is caused by mutations in PKHD1, which encodes the membrane-associated receptor- ... TRPP2 is part of a flow sensor, and is defective in autosomal dominant polycystic kidney disease and implicated in left-right ... Some of these include: PKD1: PDB: 1B4R Polycystic kidney disease 2-like 1 protein: PDB: 3TE3, 4GIF PKD2: PDB: 2KLD, 2KLE, ...
Polycystic kidney disease Romano-Ward syndrome SADDAN Tetrahydrobiopterin deficiency Thanatophoric dysplasia Type 1 Type 2 ... Phosphatidylinositol 4-kinase type 2-beta PKD2: polycystic kidney disease 2 (autosomal dominant) PLK4: Serine/threonine-protein ... Achondroplasia Autosomal dominant polycystic kidney disease (PKD-2) Bladder cancer Crouzonodermoskeletal syndrome Chronic ... "Disease genes and chromosomes: disease maps of the human genome. Chromosome 4". Genet Test. 7 (4): 351-72. doi:10.1089/ ...
... disease susceptibility according to genome-wide-association studies and may also be associated with polycystic kidney disease. ... KIAA1109 is predicted to undergo various types of post translational modifications including glycate, N-glycosylation, O-GlcNAc ... 2007). "A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21". Nat ... KIAA1109 is also expressed in various disease states including 12 different tumors as well as bladder carcinoma, chondrosarcoma ...
... autosomal dominant polycystic kidney disease, pseudoxanthoma elasticum, fibromuscular dysplasia, and osteogenesis imperfecta ... type I. IgG4-related disease involving the carotid artery has also been observed as a cause. However, although an association ... Also, the reports on the prevalence of hereditary connective tissue diseases in people with spontaneous dissections are highly ... an unusual case of IgG4-related diseases". Cardiovascular Pathology. 25 (1): 59-62. doi:10.1016/j.carpath.2015.08.006. PMID ...
... autosomal dominant polycystic kidney disease, and familial hyperaldosteronism type I. However, individuals without these ... Many of these diseases can be asymptomatic until an acute event, such as a stroke, occurs. Cerebrovascular diseases can also ... The incidence of cerebrovascular disease increases as an individual ages. Causes of acquired cerebrovascular disease include ... Any of these diseases can result in vascular dementia due to ischemic damage to the brain. The most common presentation of ...
"National Institute of Diabetes and Digestive and Kidney Diseases. June 2014. Archived from the original on 6 March 2016. ... polycystic ovary syndrome; excess weight; and conditions associated with metabolic syndrome. The American Diabetes ... Diseases of the endocrine system (ICD-10 Chapter IV: Endocrine, nutritional and metabolic diseases - Endocrine diseases, E00- ... Type 2 diabetes is typically a chronic disease associated with a ten-year-shorter life expectancy. This is partly due to a ...
Type 1 Diabetes Consortium. TB-PACTS *TB-Platform for Aggregation of Clinical TB Studies ... has issued a Letter of Support to C-Paths Polycystic Kidney Disease Outcomes Consortium (PKDOC) for the use of total kidney ... C-Paths Polycystic Kidney Disease Outcomes Consortium Secures EMA Qualification Opinion for Enrichment Biomarker in ADPKD ... Critical Path Institutes Polycystic Kidney Disease Outcomes Consortium Secures FDA Qualification for Enrichment Biomarker in ...
Publication Type. Journal Article. Year of Publication. 2019. Authors. Hartung EA, Wen J, Poznick L, Furth SL, Darge K. ... Ultrasound Elastography to Quantify Liver Disease Severity in Autosomal Recessive Polycystic Kidney Disease.. ... Ultrasound Elastography to Quantify Liver Disease Severity in Autosomal Recessive Polycystic Kidney Disease.. ... to detect congenital hepatic fibrosis and portal hypertension in children with autosomal recessive polycystic kidney disease ( ...
Document type. :. Article de périodique (Journal article). Abstract. :. The Tolvaptan Efficacy and Safety in Management of ... Effect of Tolvaptan in Autosomal Dominant Polycystic Kidney Disease by CKD Stage: Results from the TEMPO 3:4 Trial.. In: ... Effect of Tolvaptan in Autosomal Dominant Polycystic Kidney Disease by CKD Stage: Results from the TEMPO 3:4 Trial. Primary ... Home» Effect of Tolvaptan in Autosomal Dominant Polycystic Kidney Disease by CKD Stage: Results from the TEMPO 3:4 Trial. ...
... product type, route of administration, molecule type, and MOA type for Autosomal Dominant Polycystic Kidney Disease (ADPKD) ... 2. Autosomal Dominant Polycystic Kidney Disease (ADPKD) 3. Autosomal Dominant Polycystic Kidney Disease (ADPKD) Current ... Autosomal Dominant Polycystic Kidney Disease (ADPKD) Key Companies. 15. Autosomal Dominant Polycystic Kidney Disease (ADPKD) ... Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unmet Needs. 18. Autosomal Dominant Polycystic Kidney Disease (ADPKD) ...
... and sequelae of diseases, disorders, and conditions that are associated with aberrantly increased CFTR activity, for example, ... The bioactive agents described herein are useful for treating diseases, disorders, ... OSullivan et al., "Cystic Fibrosis and the Phenotype Expression of Autosomal Dominant Polycystic Kidney Disease" Am. J. Kidney ... Rabe et al., "C1.sup.- channel inhibition by glibenclamide is not specific for the CFTR-type C1.sup.- channel" Pflugers Arch. ...
Approximately 50% of the patients have polycystic kidneys. Fibrocystic disease of the liver and pancreas can be present. ... Mutations in this gene can also cause Simpson-Golabi-Behmel syndrome, type 2 (SGBS2; MIM 300209) and Joubert syndrome 10 ( ... Orofaciodigital syndrome I (OFD1; MIM 311200) is an X-linked dominant disease with lethality in males. It is characterized by ... Orofaciodigital syndrome I (OFD1; MIM 311200) is an X-linked dominant disease with lethality in males. It is characterized by ...
... is the most common form of polycystic kidney disease with an estimated incidence of approximately 1/400 to 1/1000 individuals ... Polycystic Kidney Disease Polycystic Kidney Disease Renal Cyst Liver Cyst Autosomal Recessive Polycystic Kidney Disease These ... Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of polycystic kidney disease with an estimated ... Torres VE, Wilson DM, Hattery RR, et al.: Renal stone disease in autosomal dominant polycystic kidney disease. Am J Kidney Dis ...
It is a genetically heterogeneous disease, with mutations in the PKD1 gene accounting for the majority of cases. Direct ... Autosomal dominant polycystic kidney disease (ADPKD) is primarily characterized by renal cysts and progression to renal failure ... mutation detection for PKD1-linked ADPKD or type 1 … ... PGD for autosomal dominant polycystic kidney disease type 1 Mol ... Autosomal dominant polycystic kidney disease (ADPKD) is primarily characterized by renal cysts and progression to renal failure ...
Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group.. Hateboer N1, v Dijk MA, ... Although autosomal dominant polycystic kidney disease type 2 (PKD2) is known to have a milder clinical phenotype than PKD1, ... Kidney Disease - Genetic Alliance. *Polycystic Kidney Disease - Genetic Alliance. *Polycystic kidney disease - Genetics Home ... Publication type, MeSH terms. Publication type. *Research Support, Non-U.S. Govt ...
... is the most common inherited renal disease. This pathology has been increasingly diagnosed in utero and several sonographic ... Autosomal dominant polycystic kidney disease Autosomal recessive polycystic kidney disease Fetus Kidneys PKD1 gene Prenatal ... Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease. This pathology has been ... Prenatal ultrasonography of autosomal dominant polycystic kidney disease mimicking recessive type: case series. ...
Adult type of polycystic disease of kidneys and liver presenting in childhood ... Adult type of polycystic disease of kidneys and liver presenting in childhood ...
... classifying GSDI as a potential polycystic kidney disease (PKD). PKDs are genetic disorders characterized by multiple renal ... Besides metabolic perturbations, GSDI patients develop long-term complications, especially chronic kidney disease (CKD). In ... frequently caused by the loss of expression of polycystic kidney genes, such as PKD1/2 and PKHD1. Interestingly, these genes ... Interestingly, Hnf1b expression was decreased in K.G6pc-/- kidneys. While a single case of renal cancer has been reported in a ...
Volume progression in polycystic kidney disease.. Brosnahan GM.. Comment on. *Volume progression in polycystic kidney disease. ... Publication types, MeSH terms. Publication types. *Comment. *Letter. MeSH terms. *Adult. *Child ...
Recent experiments in cultured cyst epithelial cells from kidneys of patients with autosomal dominant polycystic kidney disease ... Publication types * Comparative Study * Research Support, U.S. Govt, P.H.S. ... Cystic fibrosis and the phenotypic expression of autosomal dominant polycystic kidney disease Am J Kidney Dis. 1998 Dec;32(6): ... Recent experiments in cultured cyst epithelial cells from kidneys of patients with autosomal dominant polycystic kidney disease ...
Defines two types of polycystic kidney disease and describes their genetic origins, symptoms, diagnosis, and treatment, as well ... What are the types of PKD?. The two main types of PKD are ... Polycystic Kidney Disease (PKD) * What is PKD? * Autosomal ... If you have any kind of chronic kidney disease, including polycystic kidney disease (PKD), talk with a dietitian about which ... Polycystic kidney disease website. http://www.ghr.nlm.nih.gov/condition/polycystic-kidney-disease#statistics. Reviewed May 2014 ...
Learn about causes and signs of polycystic kidney disease (PKD). The sooner you know you have PKD, the sooner you can keep your ... What are the types of PKD?. The two main types of PKD are ... What Is Polycystic Kidney Disease?. In this section:. *What are ... Polycystic kidney disease website. http://www.ghr.nlm.nih.gov/condition/polycystic-kidney-disease#statistics. Reviewed May 2014 ... Polycystic kidney disease (PKD) is a genetic disorder that causes many fluid-filled cysts to grow in your kidneys. Unlike the ...
... Common Name(s). Polycystic kidney disease, adult type, Autosomal dominant polycystic ... "Polycystic kidney disease, adult type" (open studies are recruiting volunteers) and 81 "Polycystic kidney disease, adult type" ... ghr.nlm.nih.gov/condition/polycystic-kidney-disease. https://ghr.nlm.nih.gov/condition/medullary-cystic-kidney-disease-type-1. ... The terms "Polycystic kidney disease, adult type" returned 0 free, full-text research articles on human participants. ...
... external resources Polycystic kidneys ICD-10 Q61. ICD-9 753.1 OMIM 173900 DiseasesDB 10262 ... Other types. A small number of families with polycystic kidney disease do not have apparent mutations in any of the three known ... Polycystic Kidney Disease (also known as Polycystic Kidney Syndrome) (PKD) is a progressive, genetic disorder of the kidneys. ... Polycystic kidney disease · Medullary cystic kidney disease · Congenital cystic dysplasia. Other conditions. Hydatid cyst · Von ...
Polycystic kidney disease is a genetic disorder characterized by the growth of numerous cysts filled with fluid in the kidneys ... Carrier parents have a 25 percent chance with each pregnancy to have a child with this type of PKD. Males and females are ... What is polycystic kidney disease (PKD)?. Polycystic kidney disease is a genetic disorder characterized by the growth of ... Kidney transplantation. Acquired cystic kidney disease, or ACKD (noninherited). Acquired cystic kidney disease may develop in ...
PKD, which causes kidney cysts, is the most common inherited disease in the United States. ... Cystic kidney disease describes several conditions in which fluid-filled cysts form in the kidneys. ... Most suffer from the autosomal dominant type. It is the fourth leading cause of kidney failure and causes 10 percent of all end ... Secondary Cystic Kidney Disease. *Aquired cystic kidney disease (ACKD). *Medullary cystic disease (inner kidney)* *Juvenile ...
... including autosomal dominant polycystic kidney disease, autosomal recessive polycystic kidney disease, and acquired cystic ... Detailed information on the different types of polycystic kidney disease, ... What are the different types of PKD?. There are 2 primary inherited forms of PKD and one noninherited form:. Autosomal dominant ... What is polycystic kidney disease (PKD)?. Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of ...
a (PKD; Autosomal Dominant Polycystic Kidney Disease; ADPKD; Adult Polycystic Disease; Polycystic Kidney Disease Type 2). ... Polycystic kidney disease (PKD) is a disease that causes many cysts (fluid-filled sacs) to form in the kidneys. The kidneys ... Polycystic kidney disease (PKD) is a disease that causes many cysts (fluid-filled sacs) to form in the kidneys. The kidneys ... familydoctor.org/familydoctor/en/diseases-conditions/polycystic-kidney-disease.html. Updated April 2014. Accessed June 11, 2018 ...
Type of Study:. Interventional. Study Design:. Allocation: Randomized, Endpoint Classification: Efficacy Study, Intervention ... of autosomal-dominant polycystic kidney disease (ADPKD).. Up to this time, only generic renal disease treatments for ADPKD have ... Pilot Study of Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease. Trial Phase:. Phase 1/Phase 2. Minimum ... Pilot Study of Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease ...
Researchers identify new mitochondrial protein complex linked with type 2 diabetes Researchers at Metabolic Solutions ... Polycystic Kidney Disease News and Research. RSS Polycystic kidney disease (PKD) is a hereditary condition in which the kidneys ... Autosomal Dominant vs Autosomal Recessive Polycystic Kidney Disease (PKD). *Polycystic Kidney Disease vs. Acquired Cystic ... Tolvaptan improves kidney health in polycystic kidney disease A vasopressin V2-receptor blocker slows the increase in total ...
Most cases of known syndromic forms of CAKUT, renal tubular dysgenesis or certain types of polycystic kidney diseases are ... Autosomal dominant polycystic kidney disease (ADPKD) - Presence of multiple macroscopic cysts in both kidneys, large kidney ... Autosomal recessive polycystic kidney disease (ARPKD) - Presence of multiple microscopic cysts in both kidneys, large kidney ... "Autosomal dominant polycystic kidney disease: the last 3 years". Kidney Int. vol. 76. 2009. pp. 149-68. ...
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- TUCSON, Ariz., June 1, 2015 - The Critical Path Institute (C-Path) announced today that the U.S. Food and Drug Administration (FDA) has issued a Letter of Support to C-Path's Polycystic Kidney Disease Outcomes Consortium ( PKDOC ) for the use of total kidney volume (TKV) as a prognostic biomarker to select patients for clinical trials of new therapies for Autosomal Dominant Polycystic Kidney Disease (ADPKD). (c-path.org)
- David Baron, PhD, Chief Scientific Officer of the PKD Foundation, said, "As a patient advocate, I believe this is important because it shows that the FDA acknowledges variances in the disease progression of ADPKD patients. (c-path.org)
- This also encourages drug companies to investigate potential treatments for ADPKD that can be used earlier in the progression of the disease. (c-path.org)
- The Tolvaptan Efficacy and Safety in Management of Autosomal Dominant Polycystic Kidney Disease and Its Outcomes 3:4 study demonstrated a significant beneficial effect of the vasopressin V2 receptor antagonist tolvaptan on rates of kidney growth and eGFR decline in autosomal dominant polycystic kidney disease (ADPKD). (uclouvain.be)
- A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes. (springer.com)
- The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with severity of renal disease. (springer.com)
- It is a genetically heterogeneous disease, with mutations in the PKD1 gene accounting for the majority of cases. (nih.gov)
- Although autosomal dominant polycystic kidney disease type 2 (PKD2) is known to have a milder clinical phenotype than PKD1, neither disorder has been compared with an unaffected control population in terms of survival. (nih.gov)
- Median age at death or onset of end-stage renal disease was 53.0 years (95% CI 51.2-54.8) in individuals with PKD1, 69.1 years (66.9-71.3) in those with PKD2, and 78.0 years (73.8-82.2) in controls. (nih.gov)
- Age at presentation with kidney failure was later in PKD2 than in PKD1 (median age 74.0 [67.2-80.vs 54.3 [52.7-55.years). (nih.gov)
- Audrezet MP, Corbiere C, Lebbah S et al (2016) Comprehensive PKD1 and PKD2 mutation analysis in prenatal autosomal dominant polycystic kidney disease. (springer.com)
- Gilbert RD, Sukhtankar P, Lachlan K, Fowler DJ (2013) Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease. (springer.com)
- PKDs are genetic disorders characterized by multiple renal cyst formation, frequently caused by the loss of expression of polycystic kidney genes, such as PKD1/2 and PKHD1. (inserm.fr)
- The main type is aforementioned autosomal-dominant with faults in genes PKD1 or PKD2, but there is also an autosomal recessive version which is a much rarer disease and caused by an alteration in the gene PKHD1. (news-medical.net)
- They further subdivide this type into PKD1, PKD2, and PKD3. (massgeneral.org)
- Although pioglitazone, a PPAR-γ (peroxisome-proliferator-activated receptor-γ) agonist, has been shown to prolong survival in two rapidly progressive pkd1 (polycystic kidney disease 1)-knockout mice models through disparate mechanisms, these studies lacked data on therapeutic potential and long-term safety because of a short observation period. (clinsci.org)
- Mutations in the PKD1 , PKD2 , and PKHD1 genes cause polycystic kidney disease. (medlineplus.gov)
- People with mutations in the PKD2 gene, particularly women, typically have a less severe form of the disease than people with PKD1 mutations. (medlineplus.gov)
- Although one altered copy of a gene in each cell is sufficient to cause the disorder, an additional mutation in the second copy of the PKD1 or PKD2 gene may make cysts grow faster and increase the severity of the disease. (medlineplus.gov)
- In genetically defined cases, the designation would include the disease and gene names, with allelic (truncating/nontruncating) information included for PKD1 . (asnjournals.org)
- 14 , 22 A further difference is the number of kidney cysts, with fewer in PKD2 than PKD1 ( Figure 1, A and C ), although the rate of growth of the kidneys does not differ between the groups. (asnjournals.org)
- There are two identified genes, polycystic kidney disease 1 ( PKD1 ) and PKD2 , that code for polycystin 1 and 2, respectively. (asnjournals.org)
- PKD2 disease has a less severe phenotype and a later age of onset of ESRD than PKD1 disease (mean age=74.0 versus 54.3 years) ( 2 ). (asnjournals.org)
- Contrast this with PKD1 gene mutations, where patients could develop kidney failure in their mid 50s . (verywellhealth.com)
- Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23. (springer.com)
- An unidentified gene or genes may also be responsible for this disease. (bionity.com)
- Parents who do not have the disease can have a child with the disease if both parents carry the abnormal gene and both pass the gene to their child. (childrensnational.org)
- If both parents have the gene for autosomal recessive PKD, there is a 25 percent chance their child will have the disease. (healthcommunities.com)
- Scientists have restored the sense of smell in mice through gene therapy for the first time -- a hopeful sign for people who can't smell anything from birth or lose it due to disease. (news-medical.net)
- If you carry the gene that causes PKD but you do not have the disease, you are called a carrier. (kidneyfund.org)
- The autosomal dominant type is caused due a single defective dominant gene in a single chromosome of the homologous pair among the autosomes and the recessive type is caused due to defect in both genes of a homologous pair. (imedpub.com)
- There are several known mutations for each of these PKD disease types, e.g., there are over 250 known mutations of ADPKD1 gene. (imedpub.com)
- Because every child of a parent with Huntington's disease has a 50/50 chance of carrying the gene, it's known as the most typical of the inherited diseases. (swedish.org)
- Autosomal recessive polycystic kidney disease (ARPKD) is a rarer type of kidney disease that can only be inherited if both parents carry the faulty gene. (www.nhs.uk)
- A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1. (jax.org)
- Even though in early years, only one functional allele is sufficient to sustain the near normal kidney function, but as the individual reaches near mid-life, it is postulated that the single functional gene of the homologous pair becomes dysfunctional due to an associated somatic mutation. (imedpub.com)
- The trigger could be minor kidney damage such as a temporary obstructive or restriction to blood flow (ischemia) to renal epithelial cells, which initiates a repair mechanism, leading to a somatic mutation in the lone functional gene. (imedpub.com)
- Some types of recessive gene disorders confer an advantage in certain environments when only one copy of the gene is present. (wikipedia.org)
- Over 6000 human diseases are caused by single-gene defects. (wikipedia.org)
- The divisions between recessive and dominant types are not "hard and fast", although the divisions between autosomal and X-linked types are (since the latter types are distinguished purely based on the chromosomal location of the gene). (wikipedia.org)
- Mutations in the PKHD1 gene cause autosomal recessive polycystic kidney disease. (medlineplus.gov)
- Researchers have not determined how mutations in the PKHD1 gene lead to the formation of numerous cysts characteristic of polycystic kidney disease. (medlineplus.gov)
- Although polycystic kidney disease is usually a genetic disorder, a small percentage of cases are not caused by gene mutations. (medlineplus.gov)
- An important gene associated with Polycystic Kidney Disease 5 is DZIP1L (DAZ Interacting Zinc Finger Protein 1 Like). (malacards.org)
- Strain difference in expression of the adult-type polycystic kidney disease gene, pcy, in the mouse. (fujita-hu.ac.jp)
- DBA/2FG-pcy and C57BL/6FG-pcy congenic strains were established by transferring the polycystic kidney disease gene, pcy, to DBA/2 and C57BL/6 mice. (fujita-hu.ac.jp)
- Our results suggest that phenotypic expression of the pcy gene in the mouse depends on genetic background, and that variations in the severity of human polycystic kidney disease may be explained, at least in part, by individual differences in genetic background. (fujita-hu.ac.jp)
- Fingerprint Dive into the research topics of 'Strain difference in expression of the adult-type polycystic kidney disease gene, pcy, in the mouse. (fujita-hu.ac.jp)
- However, in the case of Autosomal Recessive PKD, there is a further mutation of the gene, which makes the severity of that type of PKD more pronounced. (medicalsymptomsguide.com)
- In order to identify a disease associated gene which is involved in the development of human polycystic kidney disease (PKD), we have constructed a physical map of the 250-kb segment and searched new genes within the segment on the centromeric side of the human major histocompatibility complex (MHC) including a human homologue of the mouse Ke6 gene, HKE6. (nii.ac.jp)
- A 1.0-kb faint message from the HKE6 gene was detected in the kidney of PKD patients. (nii.ac.jp)
- Results from a mutation in the PKHD1 (polycystic kidney and hepatic disease) gene location on chromosome 6p. (radiopaedia.org)
- Because the gene is dominant, there is a 50% chance that a child will get PKD if one parent has the disease. (canada.com)
- Our findings extend the spectrum of genetic causes for both disorders, provide insights into gene regulation and implicate glycosylation in the disease etiology. (ucl.ac.uk)
- In ≈5-15% of cases, a second gene ( PKD2 ) is responsible, and the disease is generally milder. (pnas.org)
- A, p.W189X) was identified in exon 1 of the patient's PKD2 gene, associated with polycystic kidney disease 2. (cags.org.ae)
- Defects in the gene (as is the case with other mutations as well) lead to increased growth of epithelial cells in the kidney and subsequent cyst formation. (verywellhealth.com)
- If both parents carry a gene for this disorder, each child has a 25 percent chance of getting the disease. (mayoclinic.org)
- To analyze the function of ciliary polycystic kidney disease 2 (PKD2) and its relationship to intraflagellar transport (IFT), we cloned the gene encoding Chlamydomonas reinhardtii PKD2 (CrPKD2), a protein with the characteristics of PKD2 family members. (rupress.org)
- Besides metabolic perturbations, GSDI patients develop long-term complications, especially chronic kidney disease (CKD). (inserm.fr)
- PKD is a form of chronic kidney disease (CKD) that reduces kidney function and may lead to kidney failure . (nih.gov)
- The disease often leads to chronic renal failure and may result in total loss of kidney function, known as end stage renal disease (ESRD), which requires some form of renal replacement therapy (e.g. dialysis ). (bionity.com)
- Small cysts in the collecting ducts of the inner kidney characterize medullary sponge kidney (MSK), which is associated with hematuria and kidney stones, but not chronic renal failure. (healthcommunities.com)
- Acquired cystic kidney disease (ACK) affects patients with chronic renal failure and causes hematuria, erythrocytosis (increase in red blood cells), and is associated with the development of cancer. (healthcommunities.com)
- Understanding of the causes of CAKUT and the mechanisms underlying disease progression towards chronic kidney disease (CKD) and ESKD is essential for prediction of prognosis. (clinicaladvisor.com)
- PKD causes chronic kidney disease (CKD) , which can lead to kidney failure, or end-stage renal disease (ESRD) . (kidneyfund.org)
- Instead, ACKD is caused by chronic kidney disease (CKD) or kidney failure/ESRD. (kidneyfund.org)
- Acquired cystic kidney disease (ACKD) happens in people who have chronic kidney disease , especially if they are on dialysis. (medlineplus.gov)
- Symptoms often include kidney infections and chronic pain. (businesswire.com)
- The cause of ACKD is not fully known, and contrary to PKD, it tends to develop after a patient has had chronic kidney disease for some time - most commonly when they are undergoing renal dialysis to clean the blood (for example, in end stage renal disease). (news-medical.net)
- Subsequently, the disease can trigger chronic kidney disease. (news-medical.net)
- Paget's Disease And Stem Cell Therapy Paget's disease is a chronic disease in which new bones tissues are developed to replace the old ones. (checkbiotech.org)
- Myasthenia Gravis and Stem Cell Therapy Myasthenia gravis is a chronic neuromuscular disease that is characterized by the weakness of the muscles, and also leads to the quick fatigue of the voluntary muscles. (checkbiotech.org)
- Some rare, or less common, diseases can cause kidney damage that leads to chronic kidney disease and kidney failure. (kidneyfund.org)
- A 48- year-old female had been dependent on hemodialysis for chronic renal failure due to polycystic kidney disease and was incidentally diagnosed to have a dilated common bile duct by an ultrasonography. (hindawi.com)
- Acquired, as in patients with chronic kidney disease (CKD). (verywellhealth.com)
- Most chronic kidney diseases are not reversible. (uvahealth.com)
- If you have chronic kidney disease, you may need to limit how much protein you eat. (uvahealth.com)
- PKD is characterized by the presence of multiple cysts (hence, "polycystic") in both kidneys . (bionity.com)
- Polycystic kidney disease (PKD) is a hereditary condition in which the kidneys develop multiple cysts. (news-medical.net)
- In the kidneys, multiple cysts grow from distal and collecting tubular epithelial cells producing progressive renal enlargement with relatively initial stable renal functions. (clinicaltrials.gov)
- A rare genetic disorder with autosomal recessive inheritance characterized by multiple cysts in both kidneys and associated hepatic lesions. (rightdiagnosis.com)
- This disease has been characterized by the presence or bilateral multiple cysts in the kidneys, associated or not with cystic alterations in other systems (3). (scielo.br)
- When large portions of a cat's renal parenchyma -- the functional tissue of the animal's kidneys which are normally differentiated -- are displaced by multiple cysts, the medical condition is referred to as polycystic kidney disease. (petmd.com)
- Polycystic kidney Disease (PKD), also known as polycystic kidney syndrome, is a genetic disorder of the kidneys, caused due to the presence of multiple cysts or fluid-filled sac-like structures. (medicalsymptomsguide.com)
- As the term suggests, 'poly'-cystic refers to presence of multiple cysts (closed, empty sacs, sometimes filled with fluid) in the kidney. (verywellhealth.com)
- The Rogosin Institute Susan R. Knafel Polycystic Kidney Disease Center is establishing a registry for people with polycystic kidney disease to evaluate the factors that may contribute to the progression of kidney disease over time. (centerwatch.com)
- People with polycystic kidney disease have a higher risk of aneurysm. (mayoclinic.org)
- Weaknesses and pouches or sacs in the wall of the colon (diverticulosis) may develop in people with polycystic kidney disease. (mayoclinic.org)
- Pain is a common symptom for people with polycystic kidney disease. (mayoclinic.org)
- The disease is characterized by the development of cysts that lead to progressive kidney failure and necessitate dialysis or a kidney transplant in most patients aged around fifty. (news-medical.net)
- In the United States, approximately 2,500 new people with PKD require dialysis or a kidney transplant every year, making PKD the 4th leading cause of kidney failure. (businesswire.com)
- The cysts eventually grow larger leading to end stage renal failure (ESRF) requiring kidney dialysis or transplant. (imedpub.com)
- The Kidney Transplant Program at Massachusetts General Hospital provides individualized, ongoing care for patients with end-stage renal disease (kidney failure). (massgeneral.org)
- The Pancreas Transplant Program at the Massachusetts General Hospital Transplant Center provides innovative treatment, transplant and management options for patients with type 1 diabetes, including recent kidney transplant recipients. (massgeneral.org)
- MassGeneral Hospital for Children provides individualized, multi-disciplinary, family friendly care to every child who needs a kidney or liver transplant. (massgeneral.org)
- If the kidney fails, then Hemodialysis is recommended or a kidney transplant may have to be done. (medicalsymptomsguide.com)
- The purpose of this study is to test whether a dosing regimen of eculizumab in addition to standard posttransplant care in positive crossmatch deceased donor kidney transplant recipients will reduce the incidence of acute humoral rejection (AHR). (mayo.edu)
- They work side-by-side with specially trained transplant nephrologists, endocrinologists, infectious disease specialists, and nurses who provide unmatched expertise before and after a transplant. (uchospitals.edu)
- Our team also includes a transplant pharmacist, dietitian, social worker, financial counselor, and other support staff who work solely with kidney transplant patients. (uchospitals.edu)
- Our transplant surgeons perform laparoscopic kidney donor surgeries on an almost weekly basis. (uchospitals.edu)
- If something is discovered in kidney transplant care, chances are our physicians and researchers are aware of it. (uchospitals.edu)
- Kidney retransplantation patients require more careful management than first-time patients because the body is more likely to reject an organ after a second or third transplant. (uchospitals.edu)
- In the United States, there are simply not enough organs available for kidney transplant. (uchospitals.edu)
- It is estimated that approximately 5% of patients requiring dialysis or a kidney transplant have PKD. (canada.com)
- It is not a benign disease, and a large fraction of patients could see their kidneys decline to failure, necessitating dialysis or a kidney transplant. (verywellhealth.com)
- As the disease worsens, end-stage kidney (renal) failure may result, necessitating ongoing kidney dialysis or a transplant to prolong your life. (mayoclinic.org)
- This may be done on a short-term basis until kidney function improves or it may be done until you have a kidney transplant. (uvahealth.com)
- Having a successful transplant depends on many factors, such as what is causing kidney damage and your overall health. (uvahealth.com)
- The signs and symptoms, including a decline in kidney function, tend to appear later in adulthood in people with a PKD2 mutation. (medlineplus.gov)
- However, given the later development of cysts in patients with PKD2 disease, a high false-negative rate was found in PKD2 family members. (asnjournals.org)
- PKD2 is a renal disorder characterized by the presence of fluid-filled cysts on the kidney. (cags.org.ae)
- By carrying out its functions, the PKD2 protein is found to be involved in cell proliferation, tubule development and normal kidney functioning. (cags.org.ae)
- The case highlighted the importance of molecular testing, as identification of the PKD2 variant led to a highly altered course of disease management. (cags.org.ae)
- Kidney manifestations in this disorder include renal function abnormalities, hypertension , renal pain, and renal insufficiency. (bionity.com)
- These include high blood pressure (hypertension) in 60-100 per cent of sufferers, urinary tract infections , blood in the urine (haematuria) in 50 per cent of sufferers, kidney stones in 25 per cent of sufferers, loin pain, abnormalities of the heart valves in 20 per cent of sufferers and aneurysms within the brain in about 10 per cent of families. (netdoctor.co.uk)
- CONCLUSION: Cardiac disease, especially MVD and LVOTO, was common in Bull Terriers in this study, and those with BTPKD had an increased risk of cardiac abnormalities. (biomedsearch.com)
- Frequent complications of polycystic kidney disease include dangerously high blood pressure ( hypertension ), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones , and heart valve abnormalities. (medlineplus.gov)
- Kidney Abnormalities can be tested by various blood tests, kidney biopsy, imaging tests and urine tests. (omicsonline.org)
- The cystic nature of autosomal dominant polycystic kidney disease and its renal and extrarenal complications (kidney stones, cyst hemorrhage, intracerebral aneurysm, liver cysts, cardiac valve abnormalities, etc. ) give radiologic imaging studies a central role in the management of these patients. (asnjournals.org)
- Polycystic kidney disease , Fetus, Genitourinary abnormalities. (thefreedictionary.com)
- Early signs of ARPKD in the womb are larger-than-normal kidneys and a smaller-than-average size baby, a condition called growth failure. (nih.gov)
- The recessive form, called ARPKD (autosomal recessive polycystic kidney disease) is the less common variant, mutations in the PKHD1 (chromosomal locus 6p12.2) cause ARPKD. (bionity.com)
- Autosomal recessive polycystic kidney disease (ARPKD) - Presence of multiple microscopic cysts in both kidneys, large kidney size. (clinicaladvisor.com)
- ARPKD causes cysts to form in both the kidneys and the liver. (kidneyfund.org)
- Autosomal recessive polycystic kidney disease (ARPKD), the most common pediatric ciliopathy, is characterized by cystic degeneration of the kidneys and congenital hepatic fibrosis (CHF) of the liver. (bioportfolio.com)
- In this protocol, we will clinically evaluate up to 300 children and adults with ARPKD/CHF and other rare ciliopathies with special emphasis on delineating the kidney and liver involvement. (bioportfolio.com)
- The autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) is much rarer and is often lethal early in life. (medlineplus.gov)
- 57 PKD5, a form of autosomal recessive polycystic kidney disease (ARPKD), is characterized by early childhood onset of progressive renal dysfunction associated with enlarged hyperechogenic kidneys that often results in end-stage renal disease in the second or third decade of life. (malacards.org)
- Autosomal recessive polycystic kidney disease (ARPKD) is one of many pediatric cystic renal diseases . (radiopaedia.org)
- The remaining 10% have autosomal recessive polycystic kidney disease (ARPKD), which affects infants and children. (canada.com)
- ARPKD is a rare condition caused by a genetic fault that disrupts normal development of the kidneys and liver. (kidneyresearchuk.org)
- Whilst there is no cure for ARPKD, there are various treatments that can help manage the disease, including dialysis and kidney transplantation. (kidneyresearchuk.org)
- 2009) Activation of the AKT/mTOR pathway in autosomal recessive polycystic kidney disease (ARPKD). (concordia.ca)
- Progression of autosomaldominant polycystic kidney disease in children. (springer.com)
- Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease. (springer.com)
- Volume progression in polycystic kidney disease. (nih.gov)
- We will also measure its effect on progression of kidney disease as reflected in the kidney size and the kidney function, along with its effect on kidney pain and quality of life. (clinicaltrials.gov)
- This protocol will provide longitudinal information regarding progression of renal and hepatic disease in a large cohort of patients, and will elucidate genotype-phenotype correlations. (bioportfolio.com)
- In conclusion, these results indicate that rosiglitazone was able to effectively delay the progression of kidney disease and protect renal function in Han:SPRD rats, but its adverse effect of inducing cardiac enlargement should also be monitored closely. (clinsci.org)
- In the progression of the disease, continued dilation of the tubules through increased cell proliferation, fluid secretion, and separation from the parental tubule lead to the formation of cysts. (wikipedia.org)
- The EMA opinion states, "CHMP [Committee for Medicinal Products for Human Use] supports baseline total kidney volume, in combination with patient age and eGFR [estimated glomerular filtration rate] as a prognostic biomarker to identify patients likely to experience a progressive decline in renal function, as characterized by a decline in eGFR or progression to end-stage renal disease. (c-path.org)
- From the data provided it is reasonable to expect that baseline TKV can predict disease progression and is a biomarker valuable for risk stratification. (c-path.org)
- Although polycystic kidney disease is usually not immediately life-threatening, it should be treated as early as possible to prevent cyst progression and development of secondary bacterial infection, either of which may lead to sepsis , the presence of pus -forming toxic organisms in the blood. (petmd.com)
- Finally, this work provides evidence for the value of total kidney volume to predict disease progression in autosomal dominant polycystic kidney disease. (asnjournals.org)
- Tolvaptan slows the progression of cyst development and helps protect kidney function. (kidneyresearchuk.org)
- 2 It is a systemic disorder that causes cysts to develop in the kidneys ( Figure 1 ) and in other areas of the body, leading to many clinical manifestations. (aafp.org)
- what happen when cysts develop in the kidneys in a polycystic kidney pt? (studystack.com)
- Cysts tend to develop in the kidneys and liver (and sometimes the pancreas) in late childhood or early adulthood. (kidneyresearchuk.org)
- Unlike the usually harmless simple kidney cysts that can form in the kidneys later in life, PKD cysts can change the shape of your kidneys, including making them much larger. (nih.gov)
- Cystic kidney disease describes several conditions in which fluid-filled cysts form in the kidneys . (healthcommunities.com)
- Polycystic Kidney Disease And Stem Cell Therapy Polycystic kidney disease is a genetic disorder in which cysts form in the kidneys, causing the organ to enlarge, and gradually impairing its function as the disease progresses. (checkbiotech.org)
- It is the most common inherited disorder of the kidneys. (diseaseinfosearch.org)
- Polycystic kidney disease is known to be an inherited disorder in Persian cats. (petmd.com)
- Polycystic kidney disease (PKD) is an inherited disorder in which clusters of cysts develop primarily within your kidneys, causing your kidneys to enlarge and lose function over time. (mayoclinic.org)
- CT of liver cysts in patients with autosomal dominant polycystic kidney disease. (springer.com)
- New research has uncovered a process that is defective in patients with autosomal dominant polycystic kidney disease, a common cause of kidney failure. (news-medical.net)
- A vasopressin V2-receptor blocker slows the increase in total kidney volume and decline in kidney function in patients with autosomal dominant polycystic kidney disease, report US researchers. (news-medical.net)
- The objective of the present study was to determine the frequency of the most common clinical features in patients with autosomal dominant polycystic kidney disease in a sample of the Brazilian population. (scielo.br)
- The medical records of 92 patients with autosomal dominant polycystic kidney disease attended during the period from 1985 to 2003 were reviewed. (scielo.br)
- Diagnosis of autosomal dominant PKD may include the use of imaging techniques to detect cysts on the kidney and other organs and a review of the family history of autosomal dominant PKD. (childrensnational.org)
- Diagnosis often includes ultrasound imaging of the fetus or newborn to reveal cysts in the kidneys. (vidanthealth.com)
- The FDA's Office of Orphan Drug Products grants orphan drug designation to support the development of drugs and biologics intended for the safe and effective treatment, diagnosis or prevention of diseases or disorders that affect fewer than 200,000 people in the U.S., or that affect more than 200,000 people but are not expected to recover the costs of drug development and marketing. (businesswire.com)
- It is no longer indicated to establish a diagnosis of the disease. (medscape.com)
- American Journal of kidney Diseases , Journal of Cancer Science & Therapy, Journal of Cancer Diagnosis, European Journal of Cancer Care, Journal of Cancer Research and Therapeutics, Journal of Renal Care, CardioRenal Medicine. (omicsonline.org)
- 1% of patients exhibit very early onset (VEO) disease, with a diagnosis made in utero or during infancy. (asnjournals.org)
- This article reviews the indications, comparative use, and limitation of various imaging modalities (ultrasonography, magnetic resonance imaging, computerized tomography scan, Positron emission tomography scan, and renal scintigraphy) for the diagnosis and management of complications in autosomal dominant polycystic kidney disease. (asnjournals.org)
- Kidney cysts in general are not an uncommon finding, but a diagnosis of cysts in the kidney is not necessarily PKD. (verywellhealth.com)
- This is the most common inherited form of polycystic kidney disease, accounting for about 90 percent of all PKD cases. (childrensnational.org)
- It is also the most common inherited kidney disease. (kidneyfund.org)
- Polycystic kidney disease (PKD) is one of the more common inherited conditions with an overall prevalence of somewhere between 1 in 5,000 and 1 in 10,000. (netdoctor.co.uk)
- Autosomal Dominant PKD (AD-PKD) is the most common inherited form and 90 percent of PKD cases are this type. (verywellhealth.com)
- Arnaout MA: Molecular genetics and pathogenesis of autosomal dominant polycystic kidney disease. (springer.com)
- Although genetics is only infrequently used for diagnosing these diseases and prognosing the associated outcomes, its value is beginning to be appreciated, and the genomics revolution promises more reliable and less expensive molecular diagnostic tools for these diseases. (asnjournals.org)
- Understanding the genetics of PKD is essential to understanding the disease' symptoms and course. (verywellhealth.com)
- PKD is an active area of research both for scientists, like Dr Jill Norman, who study the genetics and disease at the microscopic and molecular level and for doctors who conduct clinical trials. (kidneyresearchuk.org)
- Chauvear D, Fakhouri F, Grünfeld J-P: Liver involvement in autosomal-dominant polycystic kidney disease: therapeutic dilemma. (springer.com)
- This report provides comprehensive information on the therapeutic development for Polycystic Kidney Disease, complete with comparative analysis at various stages, therapeutics assessment by drug target, mechanism of action (MoA), route of administration (RoA) and molecule type, along with latest updates, and featured news and press releases. (mynewsdesk.com)
- It also reviews key players involved in the therapeutic development for Polycystic Kidney Disease and special features on late-stage and discontinued projects. (mynewsdesk.com)
- Betaine may have a therapeutic role in polycystic kidney disease. (greenmedinfo.com)
- Ganoderma triterpenes and its purified monomer CBLZ-7 may be potential therapeutic regents for treating autosomal dominant polycystic kidney disease. (greenmedinfo.com)
- Curcumin may have therapeutic value in polycystic kidney disease. (greenmedinfo.com)
- The Polycystic Kidney Disease (Genetic Disorders) pipeline guide also reviews of key players involved in therapeutic development for Polycystic Kidney Disease and features dormant and discontinued projects. (reportsnreports.com)
- The pipeline guide provides a snapshot of the global therapeutic landscape of Polycystic Kidney Disease (Genetic Disorders). (reportsnreports.com)
- Naperville, IL -- ( SBWIRE ) -- 12/11/2012 -- Polycystic Kidney Disease - Pipeline Review, H2 2012 , provides an overview of the indication's therapeutic pipeline. (sbwire.com)
- This report provides information on the therapeutic development for Polycystic Kidney Disease, complete with latest updates, and special features on late-stage and discontinued projects. (sbwire.com)
- It also reviews key players involved in the therapeutic development for Polycystic Kidney Disease . (sbwire.com)
- A snapshot of the global therapeutic scenario for Polycystic Kidney Disease . (sbwire.com)
- Polycystic kidney disease and therapeutic approaches. (thefreedictionary.com)
- Severe form of PKD , a genetic kidney disease. (rightdiagnosis.com)
- Sickle cell anemia is one of the most severe forms of sickle cell disease. (swedish.org)
- There are a range of possible outcomes when applying for this type of cover from moderate premium loadings in milder cases to decline where the effects are longer lasting or more severe. (the-insurance-surgery.co.uk)
- It is more severe than the other type of PKD and its symptoms can begin in the earliest months of life, even in the womb. (medicalsymptomsguide.com)
- 9 Missense mutations to LRP5 have been identified in four families, two with moderate-to-severe PLD without renal cysts, one with moderate PLD and three kidney cysts, and one with mild PLD but severe PKD in one family member. (asnjournals.org)
- In this case, it is always entirely possible that the ancestor carrying the mutation died before the disease was severe enough to cause symptoms or require dialysis. (verywellhealth.com)
- A case of glutaric acidemia type II (severe multiple acyl-CoA dehydrogenation disorder) with subsequent prenatal exclusion in a sibling. (biomedsearch.com)
- If you have severe kidney disease, limit how much potassium you eat. (uvahealth.com)
- About 90 percent of all cases of polycystic kidney disease (PKD) are inherited in an autosomal dominant fashion. (diseaseinfosearch.org)
- Most cases of polycystic kidney disease have an autosomal dominant pattern of inheritance. (medlineplus.gov)
- This form accounts for about 90 percent of cases of polycystic kidney disease. (mayoclinic.org)
- The purpose of this Limited Competition is to invite applications from the participating clinical sites and the Data Coordinating and Imaging Analysis Center (DCIAC) that have participated in the Consortium for Radiologic Imaging Studies in Polycystic Kidney Disease (CRISP) clinical study, and therefore have continued access to the cohort of patients and the data from the prospective observational study of polycystic kidney disease (PKD). (nih.gov)
- Furthermore, GSDI patients and mice develop frequently renal cysts at late stages of the nephropathy, classifying GSDI as a potential polycystic kidney disease (PKD). (inserm.fr)
- Fewer than 2 renal cysts in the findings provides a negative predictive value of 100% and can be considered sufficient for ruling out disease in at-risk individuals older than 40 years. (medscape.com)
- Clinically, the insidious increase in the number and size of renal cysts translates as a progressive increment in kidney volume. (wikipedia.org)
- Renal cysts (a closed sac that may be filled with air, fluid, or semi-solid material) develop in pre-existing nephrons (the functional filtering cells of the kidney tissue) and in the collecting ducts of the organ. (petmd.com)
- In DBA/2FG-pcy mice more than 8 weeks of age, macroscopic renal cysts were observed on the surface of both kidneys. (fujita-hu.ac.jp)
- In C57BL/6FG-pcy mice, no macroscopic renal cysts were found until the animals were 30 weeks old, and the weight of their kidneys was greater than in B6 mice of the same age. (fujita-hu.ac.jp)
- In this disease, progressive expansion of numerous bilateral renal cysts leads to massive kidney enlargement and progressive renal failure. (asm.org)
- The PKD Foundation's mission is to promote programs of research, advocacy, education, support and awareness in order to discover treatments and a cure for polycystic kidney disease and improve the lives of all it affects. (diseaseinfosearch.org)
- Autosomal dominant polycystic kidney disease affects up to 1 in 1000 people, while the autosomal recessive type is estimated to occur in approximately 1 in 20,000 people. (bionity.com)
- PKD is the fourth leading cause of kidney failure and affects approximately 600,000 people in the U.S., according to the National Kidney Foundation (NKF). (childrensnational.org)
- The disease also usually affects the liver, spleen, and pancreas. (ahealthyme.com)
- PKD is the fourth leading cause of kidney failure and affects approximately 600,000 people in the U.S. According to the National Kidney Foundation, about 50 percent of people with autosomal dominant form of PKD progress to kidney failure by age 60, and about 60 percent will have kidney failure by age 70. (nyhq.org)
- PKD is an inherited genetic disease that affects thousands of people in the United States and millions globally. (businesswire.com)
- The most common form of PKD, autosomal dominant polycystic kidney disease, affects about 1 in 500 people in the US. (news-medical.net)
- The less common version of PKD, autosomal recessive polycystic kidney disease affects about 1 in 200,000 people. (news-medical.net)
- It affects about 600,000 people in the U.S., according to the National Kidney Foundation. (massgeneral.org)
- Polycystic kidney disease is a disorder that affects the kidneys and other organs. (medlineplus.gov)
- Autosomal dominant polycystic kidney disease affects 1 in 500 to 1,000 people, while the autosomal recessive type occurs in an estimated 1 in 20,000 to 40,000 people. (medlineplus.gov)
- The PKD Foundation is the only organization in the United States solely dedicated to finding treatments and a cure for polycystic kidney disease (PKD) to improve the lives of those it affects. (c-path.org)
- Invariably, the disease affects both of the cat's kidneys. (petmd.com)
- If you would like to learn more about how this disease affects dogs, please visit this page in the PetMD health library. (petmd.com)
- This disease primarily affects children. (medicalsymptomsguide.com)
- Behind the Mystery takes a closer look at Blastic Plasmacytoid Dendritic Cell Neoplasm, a rare disease that is often misdiagnosed and affects at least 500 to 1,000 patients each year in the U.S. (thebalancingact.com)
- The autosomal dominant form of polycystic kidney disease affects 1 in 500-1000 individuals. (cags.org.ae)
- This type of mutation is called "spontaneous. (nih.gov)
- Autosomal dominant conditions sometimes have reduced penetrance , which means although only one mutated copy is needed, not all individuals who inherit that mutation go on to develop the disease. (wikipedia.org)
- The promoter mutation showed decreased transcriptional activity in patient kidney cells and impaired binding of the transcription factor ZNF143. (ucl.ac.uk)
- The disease is usually inherited from one of the parents (90 percent of cases), or, more rarely, develops 'de-novo' (called spontaneous mutation). (verywellhealth.com)
- Which of these genes has the mutation and what type of mutation it might be has a huge effect on the expected outcome of PKD. (verywellhealth.com)
- One of the reason this type of PKD is rare is because the affected patients will usually not live long enough to procreate and pass on the mutation to their kids. (verywellhealth.com)
- The site of the mutation will have an impact on the disease course. (verywellhealth.com)
- The findings, which appear in an upcoming issue of the Journal of the American Society of Nephrology (JASN), point to a new potential strategy for preventing and treating the disease. (news-medical.net)
- Renal Medicine Journals , Journal of Kidney, Journal of Nephrology & Therapeutics, Japanese Journal of Nephrology, International Journal of Nephrology and Renovascular Disease, Journal of Renal Care, CardioRenal Medicine. (omicsonline.org)
- Dr. Gordon-Cappitelli finds nephrology a fascinating area of specialty due to the complexity of diseases. (medstarhealth.org)
- You also can take steps to help delay or prevent kidney failure . (nih.gov)
- To help delay or prevent kidney failure, be active, reduce stress, and quit smoking. (nih.gov)
- PKD cysts can reduce kidney function, leading to kidney failure. (childrensnational.org)
- The NKF states that about 50 percent of people with autosomal dominant form of PKD progress to kidney failure by age 60, and about 60 percent will have kidney failure by age 70. (childrensnational.org)
- It is the fourth leading cause of kidney failure and causes 10 percent of all end-stage renal disease (ESRD), usually between the ages of 40 and 60. (healthcommunities.com)
- This leads to kidney failure. (ahealthyme.com)
- PKD causes about 2 percent (2 out of every 100) of the cases of kidney failure in the United States each year. (kidneyfund.org)
- Acquired cystic kidney disease (ACKD) may develop in association with long-term kidney problems, especially in people who have kidney failure and who have been on dialysis for a long time. (vidanthealth.com)
- About half of people with the most common type of PKD end up with kidney failure . (medlineplus.gov)
- They include medicines and lifestyle changes, and if there is kidney failure, dialysis or kidney transplants . (medlineplus.gov)
- About 50 per cent of sufferers have kidney failure by the age of 60. (netdoctor.co.uk)
- A progressive disease, cystic fibrosis causes a thick buildup of mucus in the lungs that clogs the airways and makes it possible for bacteria to thrive - leading to extensive lung damage and in some cases, respiratory failure. (swedish.org)
- Kidney function will gradually deteriorate until so much is lost that kidney failure occurs. (www.nhs.uk)
- Some people experience kidney failure soon after the condition is diagnosed, whereas others may live the rest of their life with their kidneys working relatively well. (www.nhs.uk)
- PKD is the fourth most common form of kidney failure in the USA. (news-medical.net)
- PKD is the fourth leading cause of kidney failure. (massgeneral.org)
- About 50% of people with the autosomal dominant form of PKD end up with kidney failure by age 60. (massgeneral.org)
- About 60% will have kidney failure by age 70. (massgeneral.org)
- The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. (medlineplus.gov)
- The cysts often remain undetected until they become large and numerous enough to contribute to kidney failure or an enlarged abdomen. (petmd.com)
- Polycystic kidney disease symptoms may include high blood pressure, back or side pain, headache, blood in urine, frequent urination and kidney failure. (reportsnreports.com)
- Kidney-only transplants for people with kidney failure. (uchospitals.edu)
- For many diabetics with kidney failure, this procedure provides the greatest hope for a life without dialysis or insulin injections. (uchospitals.edu)
- Autosomal-dominant polycystic kidney disease is a systemic disorder and the most common hereditary renal disease, which is characterized by cyst growth, progressive renal enlargement, and development of renal failure. (asnjournals.org)
- In the case of renal failure, patients require dialysis or kidney transplants. (cags.org.ae)
- PKD is a relatively common genetic disorder, affecting almost 1 in 500 people, and remains a leading cause of kidney failure . (verywellhealth.com)
- However, advancement of kidney disease to the point of failure could take decades from then on. (verywellhealth.com)
- Polycystic kidney disease (PKD) is the name for a range of life-threatening inherited disorders that can cause kidney failure and damage to other organs. (kidneyresearchuk.org)
- The disease can cause serious complications, including high blood pressure and kidney failure. (mayoclinic.org)
- Nearly half of those with the disease have kidney failure by age 60. (mayoclinic.org)
- You have kidney failure or other kidney problems. (rochester.edu)
- In some cases, the contrast dye can cause kidney failure. (rochester.edu)
- Kidney failure occurs when one or both kidneys aren't able to work normally. (uvahealth.com)
- Progressive cystic kidney degeneration underlies diverse renal diseases, including the most common cause of kidney failure, autosomal dominant Polycystic Kidney Disease (PKD). (concordia.ca)
- Glomerular diseases are classified into glomerulonephritis and glomerulosclerosis. (omicsonline.org)
- She also sees patients with glomerulonephritis, also called nephrotic syndrome, a group of diseases that require an understanding of the disease process throughout the body to treat effectively. (medstarhealth.org)
- Vesicoureteral reflux (VUR) - abnormal movement of urine from the bladder into the ureters or kidneys. (clinicaladvisor.com)
- A decrease in urine-concentrating ability is an early manifestation of the disease. (medscape.com)
- The main role of the kidneys is to filter out waste products from the blood and pass them out of the body in urine. (www.nhs.uk)
- Diagnosed by urine, blood , imaging tests and kidney biopsy. (omicsonline.org)
- Blood tests can show a buildup of toxins such as urea, while urine tests can show that the kidneys aren't filtering properly, allowing protein or red blood cells to pass through. (canada.com)
- Blood and urine tests will also be used to gauge your kidney function and look for the presence of protein in your urine - a sign of kidney damage. (kidneyresearchuk.org)
- The kidneys remove waste in the form of urine from the body. (uvahealth.com)
- The disease is characterized by uncontrolled growth of fluid-filled cysts in the kidney, which can each grow to be as large as a football. (businesswire.com)
- Polycystic kidney disease (PKD) is a life-threatening disorder, commonly caused by defects in polycystin-1 (PC1) or polycystin-2 (PC2), in which tubular epithelia form fluid-filled cysts 1 , 2 . (nature.com)
- A small number of families with polycystic kidney disease do not have apparent mutations in any of the three known genes. (bionity.com)
- The rate at which cysts enlarge and cause a loss of kidney function varies widely, and may be influenced by mutations in other genes that have not been identified. (medlineplus.gov)
- Although mutations for PKD are usually present at birth, kidney cysts might not be apparent at the time. (verywellhealth.com)
- This strain carries multiple undefined mutations identified in a screen of ENU-induced mutations and may be useful in studies of congenital heart disease and cystic kidney disease. (jax.org)