Bartter Syndrome: A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.Solute Carrier Family 12, Member 1: Na-K-Cl transporter in the ASCENDING LIMB OF LOOP OF HENLE. It mediates active reabsorption of sodium chloride and is inhibited by LOOP DIURETICS such as FUROSEMIDE; and BUMETANIDE. Mutations in the gene encoding SLC12A1 are associated with a BARTTER SYNDROME.Gitelman Syndrome: An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.Sodium-Potassium-Chloride Symporters: A subclass of symporters that specifically transport SODIUM CHLORIDE and/or POTASSIUM CHLORIDE across cellular membranes in a tightly coupled process.Failure to Thrive: A condition of substandard growth or diminished capacity to maintain normal function.Fanconi Syndrome: A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is usually characterized by the tubular wasting of nutrients and salts (GLUCOSE; AMINO ACIDS; PHOSPHATES; and BICARBONATES) resulting in HYPOKALEMIA; ACIDOSIS; HYPERCALCIURIA; and PROTEINURIA.Chloride Channels: Cell membrane glycoproteins that form channels to selectively pass chloride ions. Nonselective blockers include FENAMATES; ETHACRYNIC ACID; and TAMOXIFEN.Potassium Channels, Inwardly Rectifying: Potassium channels where the flow of K+ ions into the cell is greater than the outward flow.Syndrome: A characteristic symptom complex.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)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.Hypokalemia: Abnormally low potassium concentration in the blood. It may result from potassium loss by renal secretion or by the gastrointestinal route, as by vomiting or diarrhea. It may be manifested clinically by neuromuscular disorders ranging from weakness to paralysis, by electrocardiographic abnormalities (depression of the T wave and elevation of the U wave), by renal disease, and by gastrointestinal disorders. (Dorland, 27th ed)Hyperaldosteronism: A condition caused by the overproduction of ALDOSTERONE. It is characterized by sodium retention and potassium excretion with resultant HYPERTENSION and HYPOKALEMIA.Triamterene: A pteridinetriamine compound that inhibits SODIUM reabsorption through SODIUM CHANNELS in renal EPITHELIAL CELLS.Alkalosis: A pathological condition that removes acid or adds base to the body fluids.Hyperkalemia: Abnormally high potassium concentration in the blood, most often due to defective renal excretion. It is characterized clinically by electrocardiographic abnormalities (elevated T waves and depressed P waves, and eventually by atrial asystole). In severe cases, weakness and flaccid paralysis may occur. (Dorland, 27th ed)Cardiology: The study of the heart, its physiology, and its functions.Hearing Loss, Sensorineural: Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.Deafness: A general term for the complete loss of the ability to hear from both ears.Dictionaries, MedicalDictionaries as Topic: Lists of words, usually in alphabetical order, giving information about form, pronunciation, etymology, grammar, and meaning.Dictionaries, ChemicalTerminology as Topic: The terms, expressions, designations, or symbols used in a particular science, discipline, or specialized subject area.Solute Carrier Family 12, Member 3: Na-Cl cotransporter in the convoluted segments of the DISTAL KIDNEY TUBULE. It mediates active reabsorption of sodium and chloride and is inhibited by THIAZIDE DIURETICS.Sodium Chloride Symporters: A subclass of symporters found in KIDNEY TUBULES, DISTAL that are the major pathway for salt resorption. Inhibition of these symporters by BENZOTHIADIAZINES is the basis of action of some DIURETICS.rho-Associated Kinases: A group of intracellular-signaling serine threonine kinases that bind to RHO GTP-BINDING PROTEINS. They were originally found to mediate the effects of rhoA GTP-BINDING PROTEIN on the formation of STRESS FIBERS and FOCAL ADHESIONS. Rho-associated kinases have specificity for a variety of substrates including MYOSIN-LIGHT-CHAIN PHOSPHATASE and LIM KINASES.rhoA GTP-Binding Protein: A RHO GTP-BINDING PROTEIN involved in regulating signal transduction pathways that control assembly of focal adhesions and actin stress fibers. This enzyme was formerly listed as EC 3.6.1.47.MedlinePlus: NATIONAL LIBRARY OF MEDICINE service for health professionals and consumers. It links extensive information from the National Institutes of Health and other reviewed sources of information on specific diseases and conditions.Kidney: Body organ that filters blood for the secretion of URINE and that regulates ion concentrations.Infant, Premature: A human infant born before 37 weeks of GESTATION.Circle of Willis: A polygonal anastomosis at the base of the brain formed by the internal carotid (CAROTID ARTERY, INTERNAL), proximal parts of the anterior, middle, and posterior cerebral arteries (ANTERIOR CEREBRAL ARTERY; MIDDLE CEREBRAL ARTERY; POSTERIOR CEREBRAL ARTERY), the anterior communicating artery and the posterior communicating arteries.Infant, Newborn: An infant during the first month after birth.Kidney Diseases: Pathological processes of the KIDNEY or its component tissues.Hemorrhagic Fever with Renal Syndrome: An acute febrile disease occurring predominately in Asia. It is characterized by fever, prostration, vomiting, hemorrhagic phenonema, shock, and renal failure. It is caused by any one of several closely related species of the genus Hantavirus. The most severe form is caused by HANTAAN VIRUS whose natural host is the rodent Apodemus agrarius. Milder forms are caused by SEOUL VIRUS and transmitted by the rodents Rattus rattus and R. norvegicus, and the PUUMALA VIRUS with transmission by Clethrionomys galreolus.Anti-Inflammatory Agents, Non-Steroidal: Anti-inflammatory agents that are non-steroidal in nature. In addition to anti-inflammatory actions, they have analgesic, antipyretic, and platelet-inhibitory actions.They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins. Inhibition of prostaglandin synthesis accounts for their analgesic, antipyretic, and platelet-inhibitory actions; other mechanisms may contribute to their anti-inflammatory effects.Hypokalemic Periodic Paralysis: An autosomal dominant familial disorder characterized by recurrent episodes of skeletal muscle weakness associated with falls in serum potassium levels. The condition usually presents in the first or second decade of life with attacks of trunk and leg paresis during sleep or shortly after awakening. Symptoms may persist for hours to days and generally are precipitated by exercise or a meal high in carbohydrates. (Adams et al., Principles of Neurology, 6th ed, p1483)Paralyses, Familial Periodic: A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)Paralysis, Hyperkalemic Periodic: An autosomal dominant familial disorder which presents in infancy or childhood and is characterized by episodes of weakness associated with hyperkalemia. During attacks, muscles of the lower extremities are initially affected, followed by the lower trunk and arms. Episodes last from 15-60 minutes and typically occur after a period of rest following exercise. A defect in skeletal muscle sodium channels has been identified as the cause of this condition. Normokalemic periodic paralysis is a closely related disorder marked by a lack of alterations in potassium levels during attacks of weakness. (Adams et al., Principles of Neurology, 6th ed, p1481)NAV1.4 Voltage-Gated Sodium Channel: A voltage-gated sodium channel subtype that mediates the sodium ion PERMEABILITY of SKELETAL MYOCYTES. Defects in the SCN4A gene, which codes for the alpha subunit of this sodium channel, are associated with several MYOTONIC DISORDERS.Translational Medical Research: The application of discoveries generated by laboratory research and preclinical studies to the development of clinical trials and studies in humans. A second area of translational research concerns enhancing the adoption of best practices.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.Intention: What a person has in mind to do or bring about.Nephrology: A subspecialty of internal medicine concerned with the anatomy, physiology, and pathology of the kidney.Neoplasm Staging: Methods which attempt to express in replicable terms the extent of the neoplasm in the patient.CreatinineWashingtonGene Products, rex: Post-transcriptional regulatory proteins required for the accumulation of mRNAs that encode the gag and env gene products in HUMAN T-LYMPHOTROPIC VIRUS 1 and HUMAN T-LYMPHOTROPIC VIRUS 2. The rex (regulator x; x is undefined) products act by binding to elements in the LONG TERMINAL REPEAT.SwedenAcademic Medical Centers: Medical complexes consisting of medical school, hospitals, clinics, libraries, administrative facilities, etc.Th2 Cells: Subset of helper-inducer T-lymphocytes which synthesize and secrete the interleukins IL-4, IL-5, IL-6, and IL-10. These cytokines influence B-cell development and antibody production as well as augmenting humoral responses.Solute Carrier Family 12, Member 4: K-Cl cotransporter ubiquitously expressed with higher expression levels in ERYTHROCYTES of ANEMIA, SICKLE CELL. It mediates active potassium and chloride cotransport across the plasma membrane and contributes to cell volume homeostasisLoop of Henle: The U-shaped portion of the renal tubule in the KIDNEY MEDULLA, consisting of a descending limb and an ascending limb. It is situated between the PROXIMAL KIDNEY TUBULE and the DISTAL KIDNEY TUBULE.Chlorides: Inorganic compounds derived from hydrochloric acid that contain the Cl- ion.Escherichia coli Proteins: Proteins obtained from ESCHERICHIA COLI.Recombinant Proteins: Proteins prepared by recombinant DNA technology.Escherichia coli: A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.Heat-Shock Proteins: Proteins which are synthesized in eukaryotic organisms and bacteria in response to hyperthermia and other environmental stresses. They increase thermal tolerance and perform functions essential to cell survival under these conditions.HSP70 Heat-Shock Proteins: A class of MOLECULAR CHAPERONES found in both prokaryotes and in several compartments of eukaryotic cells. These proteins can interact with polypeptides during a variety of assembly processes in such a way as to prevent the formation of nonfunctional structures.Aldehyde Reductase: An enzyme that catalyzes reversibly the oxidation of an aldose to an alditol. It possesses broad specificity for many aldoses. EC 1.1.1.21.HSP40 Heat-Shock Proteins: A family of heat-shock proteins that contain a 70 amino-acid consensus sequence known as the J domain. The J domain of HSP40 heat shock proteins interacts with HSP70 HEAT-SHOCK PROTEINS. HSP40 heat-shock proteins play a role in regulating the ADENOSINE TRIPHOSPHATASES activity of HSP70 heat-shock proteins.HSP27 Heat-Shock Proteins: A subfamily of small heat-shock proteins that function as molecular chaperones that aid in refolding of non-native proteins. They play a protective role that increases cellular survival during times of stress.Calcaneus: The largest of the TARSAL BONES which is situated at the lower and back part of the FOOT, forming the HEEL.Rickets: Disorders caused by interruption of BONE MINERALIZATION manifesting as OSTEOMALACIA in adults and characteristic deformities in infancy and childhood due to disturbances in normal BONE FORMATION. The mineralization process may be interrupted by disruption of VITAMIN D; PHOSPHORUS; or CALCIUM homeostasis, resulting from dietary deficiencies, or acquired, or inherited metabolic, or hormonal disturbances.Diagnostic Errors: Incorrect diagnoses after clinical examination or technical diagnostic procedures.Bone and Bones: A specialized CONNECTIVE TISSUE that is the main constituent of the SKELETON. The principle cellular component of bone is comprised of OSTEOBLASTS; OSTEOCYTES; and OSTEOCLASTS, while FIBRILLAR COLLAGENS and hydroxyapatite crystals form the BONE MATRIX.Diet, Sodium-Restricted: A diet which contains very little sodium chloride. It is prescribed by some for hypertension and for edematous states. (Dorland, 27th ed)

A mutation linked with Bartter's syndrome locks Kir 1.1a (ROMK1) channels in a closed state. (1/139)

Mutations in the inward rectifying renal K(+) channel, Kir 1.1a (ROMK), have been linked with Bartter's syndrome, a familial salt-wasting nephropathy. One disease-causing mutation removes the last 60 amino acids (332-391), implicating a previously unappreciated domain, the extreme COOH terminus, as a necessary functional element. Consistent with this hypothesis, truncated channels (Kir 1.1a 331X) are nonfunctional. In the present study, the roles of this domain were systematically evaluated. When coexpressed with wild-type subunits, Kir 1.1a 331X exerted a negative effect, demonstrating that the mutant channel is synthesized and capable of oligomerization. Plasmalemma localization of Kir 1.1a 331X green fluorescent protein (GFP) fusion construct was indistinguishable from the GFP-wild-type channel, demonstrating that mutant channels are expressed on the oocyte plasma membrane in a nonconductive or locked-closed conformation. Incremental reconstruction of the COOH terminus identified amino acids 332-351 as the critical residues for restoring channel activity and uncovered the nature of the functional defect. Mutant channels that are truncated at the extreme boundary of the required domain (Kir 1.1a 351X) display marked inactivation behavior characterized by frequent occupancy in a long-lived closed state. A critical analysis of the Kir 1.1a 331X dominant negative effect suggests a molecular mechanism underlying the aberrant closed-state stabilization. Coexpression of different doses of mutant with wild-type subunits produced an intermediate dominant negative effect, whereas incorporation of a single mutant into a tetrameric concatemer conferred a complete dominant negative effect. This identifies the extreme COOH terminus as an important subunit interaction domain, controlling the efficiency of oligomerization. Collectively, these observations provide a mechanistic basis for the loss of function in one particular Bartter's-causing mutation and identify a structural element that controls open-state occupancy and determines subunit oligomerization. Based on the overlapping functions of this domain, we speculate that intersubunit interactions within the COOH terminus may regulate the energetics of channel opening.  (+info)

Channelopathies of inwardly rectifying potassium channels. (2/139)

Mutations in genes encoding ion channels have increasingly been identified to cause disease conditions collectively termed channelopathies. Recognizing the molecular basis of an ion channel disease has provided new opportunities for screening, early diagnosis, and therapy of such conditions. This synopsis provides an overview of progress in the identification of molecular defects in inwardly rectifying potassium (Kir) channels. Structurally and functionally distinct from other channel families, Kir channels are ubiquitously expressed and serve functions as diverse as regulation of resting membrane potential, maintenance of K(+) homeostasis, control of heart rate, and hormone secretion. In humans, persistent hyperinsulinemic hypoglycemia of infancy, a disorder affecting the function of pancreatic beta cells, and Bartter's syndrome, characterized by hypokalemic alkalosis, hypercalciuria, increased serum aldosterone, and plasma renin activity, are the two major diseases linked so far to mutations in a Kir channel or associated protein. In addition, the weaver phenotype, a neurological disorder in mice, has also been associated with mutations in a Kir channel subtype. Further genetic linkage analysis and full understanding of the consequence that a defect in a Kir channel would have on disease pathogenesis are among the priorities in this emerging field of molecular medicine.  (+info)

Dose related growth response to indometacin in Gitelman syndrome. (3/139)

Growth failure is a recognised feature of Gitelman syndrome, although it is not as frequent as in Bartter syndrome. Indometacin is reported to improve growth in Bartter syndrome, but not in Gitelman syndrome, where magnesium supplements are recommended. This paper presents 3 sisters with Gitelman syndrome who could not tolerate magnesium supplements, and whose hypotension and polyuria were eliminated by taking 2 mg/kg/day indometacin, but who grew poorly. However, increasing the indometacin dose to 4 mg/kg/day improved their growth significantly, without changing their symptoms or biochemistry. Gastrointestinal haemorrhage necessitated the use of misoprostol.  (+info)

pH gating of ROMK (K(ir)1.1) channels: control by an Arg-Lys-Arg triad disrupted in antenatal Bartter syndrome. (4/139)

Inward-rectifier K(+) channels of the ROMK (K(ir)1.1) subtype are responsible for K(+) secretion and control of NaCl absorption in the kidney. A hallmark of these channels is their gating by intracellular pH in the neutral range. Here we show that a lysine residue close to TM1, identified previously as a structural element required for pH-induced gating, is protonated at neutral pH and that this protonation drives pH gating in ROMK and other K(ir) channels. Such anomalous titration of this lysine residue (Lys-80 in K(ir)1.1) is accomplished by the tertiary structure of the K(ir) protein: two arginines in the distant N and C termini of the same subunit (Arg-41 and Arg-311 in K(ir)1.1) are located in close spatial proximity to the lysine allowing for electrostatic interactions that shift its pK(a) into the neutral pH range. Structural disturbance of this triad as a result from a number of point mutations found in patients with antenatal Bartter syndrome shifts the pK(a) of the lysine residue off the neutral pH range and results in channels permanently inactivated under physiological conditions. Thus, the results provide molecular understanding for normal pH gating of K(ir) channels as well as for the channel defects found in patients with antenatal Bartter syndrome.  (+info)

Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome. (5/139)

Gitelman's syndrome (GS) is an autosomal recessive disorder characterized by metabolic alkalosis, hypokalemia, hypomagnesemia, and hypocalciuria that has recently been reported to be linked to thiazide-sensitive Na-Cl cotransporter (TSC) gene mutations. In this study, possible mutations in the TSC gene of six Japanese patients clinically diagnosed with GS were investigated. Twenty-six exons encoding TSC were amplified by PCR and then completely sequenced by the direct sequencing method. Patient A showed a missense mutation of Arg 642 to Cys on the paternal allele and a missense mutation of Val 578 to Met and a 2-bp deletion (nucleotide 2543-2544) on the maternal allele. This deletion results in a frameshift that alters codon 837 to encode a stop signal rather than phenylalanine, and it is predicted to lead to loss of the latter half of the intracellular carboxy terminus. In the second family, two affected sisters, patients B and C, had a homozygous missense mutation of Thr 180 to Lys. Both of their parents, who are consanguineously married, have a heterozygous Thr180Lys mutation. Patient D has a homozygous mutation Thr180Lys, which is the same as the second family. Haplotype analysis indicates that patients B and C are not related to patient D. In patients E and F, we could identify only one mutant allele; Ala569Glu and Leu849His, respectively. All of the mutations identified are novel except for the Arg642Cys mutation, which has been found in a Japanese GS patient. Although further in vitro study is required to prove that the mutations are responsible for GS, it is possible that Thr180Lys and Arg642Cys mutations might be common mutations in Japanese GS.  (+info)

Uncompensated polyuria in a mouse model of Bartter's syndrome. (6/139)

We have used homologous recombination to disrupt the mouse gene coding for the NaK2Cl cotransporter (NKCC2) expressed in kidney epithelial cells of the thick ascending limb and macula densa. This gene is one of several that when mutated causes Bartter's syndrome in humans, a syndrome characterized by severe polyuria and electrolyte imbalance. Homozygous NKCC2-/- pups were born in expected numbers and appeared normal. However, by day 1 they showed signs of extracellular volume depletion (hematocrit 51%; wild type 37%). They subsequently failed to thrive. By day 7, they were small and markedly dehydrated and exhibited renal insufficiency, high plasma potassium, metabolic acidosis, hydronephrosis of varying severity, and high plasma renin concentrations. None survived to weaning. Treatment of -/- pups with indomethacin from day 1 prevented growth retardation and 10% treated for 3 weeks survived, although as adults they exhibited severe polyuria (10 ml/day), extreme hydronephrosis, low plasma potassium, high blood pH, hypercalciuria, and proteinuria. Wild-type mice treated with furosemide, an inhibitor of NaK2Cl cotransporters, have a phenotype similar to the indomethacin-rescued -/- adults except that hydronephrosis was mild. The polyuria, hypercalciuria, and proteinuria of the -/- adults and furosemide-treated wild-type mice were unresponsive to inhibitors of the renin angiotensin system, vasopressin, and further indomethacin. Thus absence of NKCC2 in the mouse causes polyuria that is not compensated elsewhere in the nephron. The NKCC2 mutant animals should be valuable for uncovering new pathophysiologic and therapeutic aspects of genetic disturbances in water and electrolyte recovery by the kidney.  (+info)

Bartter syndrome: an overview. (7/139)

The term Bartter syndrome denotes a group of renal diseases which share a common denominator of hypokalaemia and metabolic alkalosis. The patch-clamp technique has made possible the analysis of single ion channels, improving our understanding of the molecular physiopathology of all the 'Bartter-like' syndromes. Genetic mapping of each defect has further clarified the mutations involved and the possible modes of inheritance. This improved understanding has opened new avenues for therapy, improving mortality and morbidity in these patients. Another group of illnesses, the 'pseudo-Bartter syndrome', may produce a hypokalaemic metabolic alkalosis without primary renal disease. The underlying illness needs to be identified and treated.  (+info)

Functional and structural analysis of ClC-K chloride channels involved in renal disease. (8/139)

ClC-K channels belong to the CLC family of chloride channels and are predominantly expressed in the kidney. Genetic evidence suggests their involvement in transepithelial transport of chloride in distal nephron segments; ClC-K1 gene deletion leads to nephrogenic diabetes insipidus in mice, and mutations of the hClC-Kb gene cause Bartter's syndrome type III in humans. Expression of rClC-K1 in Xenopus oocytes yielded voltage-independent currents that were pH-sensitive, had a Br(-) > NO(3)(-) = Cl(-) > I(-) conductance sequence, and were activated by extracellular calcium. A glutamate for valine exchange at amino acid position 166 induced strong voltage dependence and altered the conductance sequence of ClC-K1. This demonstrates that rClC-K1 indeed functions as an anion channel. By contrast, we did not detect currents upon hClC-Kb expression in Xenopus oocytes. Using a chimeric approach, we defined a protein domain that, when replaced by that of rClC-K1, allowed the functional expression of a chimera consisting predominantly of hClC-Kb. Its currents were linear and were inhibited by extracellular acidification. Contrasting with rClC-K1, they displayed a Cl(-) > Br(-)> I(-) > NO(3)(-) conductance sequence and were not augmented by extracellular calcium. Insertion of point mutations associated with Bartter's syndrome type III destroyed channel activity. We conclude that ClC-K proteins form constitutively open chloride channels with distinct physiological characteristics.  (+info)

*Bartter syndrome

Pseudo-Bartter's syndrome is a syndrome of similar presentation as Bartter syndrome but without any of its characteristic ... Pseudo-Bartter's syndrome has been seen in cystic fibrosis, as well as in excessive use of laxatives. "Bartter Syndrome: ... Prenatal Bartter syndrome can be associated with polyhydramnios. Bartter syndrome is caused by mutations of genes encoding ... is milder than both subtypes of Bartter syndrome. In 90% of cases, neonatal Bartter syndrome is seen between 24 and 30 weeks of ...

*Polyhydramnios

"Hereditary disease: Bartter syndrome". Moldiag.de. Retrieved 2012-09-28. Piantelli G, Bedocchi L, Cavicchioni O, et al. (2004 ... fetal renal disorders that result in increased urine production during pregnancy, such as in antenatal Bartter syndrome. ... 2008). "An improved terminology and classification of Bartter-like syndromes". Nat Clin Pract Nephrol. 4 (10): 560-7. doi: ... chromosomal abnormalities such as Down syndrome and Edwards syndrome (which is itself often associated with GI abnormalities) ...

*Syndrome of inappropriate antidiuretic hormone secretion

Schwartz-Bartter syndrome. Because not all people with this syndrome have elevated levels of vasopressin, the term "syndrome of ... Schwartz-Bartter syndrome at Who Named It? Feldman, BJ; Rosenthal, SM; Vargas, GA; Fenwick, RG; Huang, EA; Matsuda-Abedini, M; ... Bartter, Frederic C.; Schwartz, William B. (1967). "The syndrome of inappropriate secretion of antidiuretic hormone". The ... needs update] Schwartz, William B.; Bennett, Warren; Curelop, Sidney; Bartter, Frederic C. (1957). "A syndrome of renal sodium ...

*Exome sequencing

... another group reported successful clinical diagnosis of a suspected Bartter syndrome patient of Turkish origin. Bartter ... Researchers have used exome sequencing to identify the underlying mutation for a patient with Bartter Syndrome and congenital ... Since Miller syndrome is a rare disorder, it is expected that the causal variant has not been previously identified. Previous ... Each individual with Miller syndrome was a compound heterozygote for the DHODH mutations which were inherited as each parent of ...

*CLCNKB

2002). "Bartter syndrome type 3: an unusual cause of nephrolithiasis". Nephrol. Dial. Transplant. 17 (3): 521-3. doi:10.1093/ ... 2004). "A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes". Kidney Int. 63 (1 ... 2000). "Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome". J. Am. Soc. Nephrol. 11 (8): ... Mutations in CLCNKB result in the autosomal recessive Type III Bartter syndrome. CLCNKA and CLCNKB are closely related (94% ...

*BSND

2003). "Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb ... Bartter syndrome, infantile, with sensorineural deafness (Barttin), also known as BSND, is a human gene which is associated ... Hayama A, Rai T, Sasaki S, Uchida S (2004). "Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene". ... 2006). "Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families". Pediatr. Nephrol. 21 (5 ...

*Magnesium deficiency (medicine)

Also deficiency may occur in Bartter syndrome and Gitelman syndrome. Magnesium is a co-factor in over 300 functions in the body ... Rodríguez-Soriano, Juan (May 1998). "Bartter and related syndromes: the puzzle is almost solved". Pediatric Nephrology. 12 (4 ... January 1996). "Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the ...

*Inward-rectifier potassium channel

Bartter's syndrome can be caused by mutations in Kir channels. This condition is characterized by the inability of kidneys to ... Andersen's syndrome is a rare condition caused by multiple mutations of Kir2.1. Depending on the mutation, it can be dominant ... EAST/SeSAME syndrome may be caused by mutations of KCNJ10.[citation needed] Neuroscience portal G protein-coupled inwardly- ...

*ROMK

Cho JT, Guay-Woodford LM (February 2003). "Heterozygous mutations of the gene for Kir 1.1 (ROMK) in antenatal Bartter syndrome ... Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, ... "A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism". Pediatric Nephrology. 22 (8): 1219- ... "Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome". Nephrology, Dialysis, Transplantation. ...

*Extraglomerular mesangial cell

Immunohistochemical and electron-microscopic studies on biopsies from patients with pseudo-Bartter syndrome". Cell and Tissue ...

*ALS2

2001). "Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure". Nat. Genet. 29 (3): 310-4. ...

*William Schwartz (physician)

The syndrome Schwartz-Bartter's syndrome is named after him, along with Frederic Bartter. McLellan, Dennis (March 30, 2009). " ...

*Spastic ataxia-corneal dystrophy syndrome

A member of the family who was first diagnosed with this disease also had Bartter syndrome. It was concluded by its first ... Spastic ataxia-corneal dystrophy syndrome (also known as Bedouin spastic ataxia syndrome) is an autosomally resessive disease. ... that the disease is different from a disease known as corneal-cerebellar syndrome that had been found in 1985. Symptoms include ... Report of a Bedouin family-a new syndrome". J. Neurol. Sci. 76 (1): 105-21. doi:10.1016/0022-510x(86)90145-0. PMID 3465874. ...

*Gitelman syndrome

... was formerly considered a subset of Bartter syndrome until the distinct genetic and molecular bases of these ... Bartter syndrome is also an autosomal recessive hypokalemic metabolic alkalosis, but it derives from a mutation to the NKCC2 ... Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP (June 1996). "Bartter's syndrome, hypokalaemic alkalosis with ... Unwin RJ, Capasso G (2006). "Bartter's and Gitelman's syndromes: their relationship to the actions of loop and thiazide ...

*Calcium-sensing receptor

Other mutations that activate CaSR are the cause of autosomal dominant hypocalcemia or Type 5 Bartter syndrome. An ...

*Na-K-Cl cotransporter

Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP (June 1996). "Bartter's syndrome, hypokalaemic alkalosis with ... A loss of function mutation of NKCC2 produces Bartter syndrome, an autosomal recessive disorder characterized by hypokalemic ...

*Chloride channel

Bartter's syndrome, which is associated with renal salt wasting and hypokalemic alkalosis, is due to the defective transport of ... Thomsen's disease, Dent's disease, infantile malignant osteopetrosis, and Bartter's syndrome are all genetic disorders due to ...

*CLCNKA

his manifests as a chronic salt wasting disorder similar to Bartter syndrome, as sodium reabsorption is coupled with chloride ... collectively referred to as cardiorenal syndrome. Being heterozygous for this Arg83Gly variant increases the risk of heart ...

*Tertiapin

An inhibition will result in loss of potassium, as observed in Bartter syndrome, which can be caused by mutations in the ROMK ...

*Hypokalemia

Rare hereditary defects of renal salt transporters, such as Bartter syndrome or Gitelman syndrome, can cause hypokalemia, in a ... As opposed to disease states of primary excesses of aldosterone, blood pressure is either normal or low in Bartter's or ... These include renal artery stenosis and tumors (generally nonmalignant) of the adrenal glands, e.g., Conn's syndrome (primary ... This deficiency-known as apparent mineralocorticoid excess syndrome-can either be congenital or caused by consumption of ...

*Calcilytic

... differentially mitigate excessive signalling of calcium-sensing receptor mutants causing Bartter syndrome Type 5 and autosomal ...

*List of MeSH codes (C19)

... cushing syndrome MeSH C19.053.800.604 --- hyperaldosteronism MeSH C19.053.800.604.249 --- bartter syndrome MeSH C19.246.099.500 ... kallmann syndrome MeSH C19.391.482.629 --- klinefelter syndrome MeSH C19.391.482.814 --- sexual infantilism MeSH C19.391. ... digeorge syndrome MeSH C19.700.159.750 --- diabetes insipidus, neurogenic MeSH C19.700.159.875 --- wolfram syndrome MeSH ... kallmann syndrome MeSH C19.391.775.454 --- klinefelter syndrome MeSH C19.391.829.258 --- cryptorchidism MeSH C19.391.829.493 ...

*Natriuresis

Excess natriuresis can be caused by: Medullary cystic disease Bartter syndrome Diuretic phase of acute tubular necrosis Some ... diuretics Primary renal diseases Congenital adrenal hyperplasia Syndrome of inappropriate antidiuretic hormone hypersecretion ...

*List of diseases (B)

... syndrome Barrett syndrome Barrow-Fitzsimmons syndrome Barth syndrome Bartonella infections Bartsocas-Papas syndrome Bartter ... Becker's nevus Beemer-Ertbruggen syndrome Beemer-Langer syndrome Behcet syndrome Behr syndrome Behrens-Baumann-Dust syndrome ... sclerosis Bamforth syndrome BANF acoustic neurinoma Bangstad syndrome Banki syndrome Bannayan-Zonana syndrome Banti's syndrome ... syndrome Bonneman-Meinecke-Reich syndrome Bonnemann-Meinecke syndrome Bonnevie-Ullrich-Turner syndrome Book syndrome Boomerang ...

*Metabolic alkalosis

Excess Glycyrrhizin consumption Bartter syndrome and Gitelman syndrome - syndromes with presentations analogous to taking ... creating a Bartter's syndrome like effect. Compensation for metabolic alkalosis occurs mainly in the lungs, which retain carbon ... Hyperaldosteronism - Loss of hydrogen ions in the urine occurs when excess aldosterone (Conn's syndrome) increases the activity ... diuretics characterized with normotensive patients Liddle syndrome - a gain of function mutation in the genes encoding the ...

*List of OMIM disorder codes

CLCNKB Bartter syndrome, type 4, digenic; 602522; CLCNKB Bartter syndrome, type 4a; 602522; BSND Bartter syndrome, type 4b, ... GJB2 Bartter syndrome, type 1; 601678; SLC12A1 Bartter syndrome, type 2; 241200; KCNJ1 Bartter syndrome, type 3; 607364; ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ...
Bartter syndrome is a rare inherited defect in the thick ascending limb of the loop of Henle. It is characterized by low potassium levels (hypokalemia), increased blood pH (alkalosis), and normal to low blood pressure. There are two types of Bartter syndrome: neonatal and classic. A closely associated disorder, Gitelman syndrome, is milder than both subtypes of Bartter syndrome. In 90% of cases, neonatal Bartter syndrome is seen between 24 and 30 weeks of gestation with excess amniotic fluid (polyhydramnios). After birth, the infant is seen to urinate and drink excessively (polyuria, and polydipsia, respectively). Life-threatening dehydration may result if the infant does not receive adequate fluids. About 85% of infants dispose of excess amounts of calcium in the urine (hypercalciuria) and kidneys (nephrocalcinosis), which may lead to kidney stones. In rare occasions, the infant may progress to renal failure. Patients with classic Bartter syndrome may have symptoms in the first two years of ...
Bartter syndrome is a rare inherited kidney disorder in the thick ascending limb of the loop of Henle. It is characterized by low potassium levels (hypokalemia), increased blood pH (alkalosis), and normal to low blood pressure. There are two types of Bartter syndrome: neonatal and classic. A closely associated disorder, Gitelman syndrome, is milder than both subtypes of Bartter syndrome.Wikipedia Bartter and Gitelman syndromes can be divided into different subtypes based on the genes involved 10.1159/000076752: ...
Despite the recent sucesses in elucidating the molecular pathogenesis of the Bartter-like syndromes, therapies designed to arrest or correct the primary defects are not yet available. Therefore, the main therapeutic objective is to ameliorate the hypokalemic, hypochloremic, metabolic alkalosis. Potassium chloride supplementation is the mainstay of therapy. Oral supplementation alone is usually ineffective, however, in normalizing serum potassium concentrations, probably because large amounts of exogenous K further stimulates aldosterone synthesis with resultant increases in hyperkaliuria. The addition of K-sparing diuretics, eg, spironolactone, amilioride, or triamterene, may help to correct the total body K balance. In fact, the therapeutic combination of the K supplementation and K-sparing diuretics has been associated with increased growth rates in affected children. In young infants, marked urinary salt wasting may also occur and necessitate NaCl supplementation. Indomethacin therapy ...
Increased permeability of the cell membranes for Na+, usually measured in red blood cells, is a well-known phenomenon in Bartters syndrome.16-18 The degree of Na+ permeability differs between the patients with Bart-ters syndrome (Table 2⇑), as do Na+,K+,2Cl− antiport and calcium-dependent K+ permeability. Thus, a conclusion of heterogeneity of the Bartters syndrome (or Bartter-like syndromes) could be made. Indeed, even a preliminary analysis dissects Bartters syndrome into at least three different entities: (1) a type with hypercalciuria, normomagnesemia, increased cAMP-dependent NHE, nearly absent Na+,K+,2Cl− cotransport, increased calcium-activated K+ permeability, and a good effect of nonsteroidal anti-inflammatory drugs in the past (patients A through D, classic Bartters syndrome)1-4; (2) a type without calciuria, with hypomagnesemia, calmodulin-dependent enhancement of NHE, normal or increased Na+,K+,2Cl− cotransport, high calcium-dependent K+ permeability, and no effect of ...
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Derst, C.; Wischmeyer, E.; Preisig-Mueller, R.; Spauschus, A.; Konrad, M.; Hensen, P.; Jeck, N.; Seyberth, H. W.; Daut, J.; Karschin, A.: A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels. Journal of Biological Chemistry 273, pp. 23884 - 23891 (1998 ...
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Disease: (OMIM: 263800 600968) Defects in SLC12A3 are the cause of Gitelman syndrome (GS) [MIM:263800]. GS is an autosomal recessive disorder characterized by hypokalemic alkalosis in combination with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. Patients are often asymptomatic or present transient periods of muscular weakness and tetany, usually accompanied by abdominal pain, vomiting and fever. The phenotype is highly heterogeneous in terms of age at onset and severity. Cardinal features such as hypocalciuria and hypomagnesemia might also change during the life cycle of a given patient. GS has overlapping features with Bartter syndrome ...
J:72408 Birkenhager R, Otto E, Schurmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad M, Landau D, Knoers NV, Antignac C, Sudbrak R, Kispert A, Hildebrandt F, Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet. 2001 Nov;29(3):310-4 ...
Results Forty-three patients (28M/15F) had CCD. Fifteen patients (35%) were diagnosed after one year of age (late referral or misdiagnosis as Bartter syndrome). Premature delivery in 24 cases (55.8%). Polyhydramnios in 26 pregnancies. All patients were distributed among 19 families with 33 children being the outcome of consanguineous marriages. Intractable diarrhea was the presenting symptom in 40patients (93%), Biochemical data revealed: Serum potassium (1.3-4.1, mean 2.4Mmol/l), s. chloride (39-95, mean76.2Mmol/l), s.bicarbonate (22-54) meam-37.6 Mmol/). Fecal chloride (134±21.6, mean±SD)(range 90-205). The fecal chloride over fecal sodium plus potassium ratio was 0.6 (1.1±0.3, mean ± SD)(N.=0.2). Associated disorders were: chronic renal failure 7 (16%), congenital anomalies 8 (19%), mental retardation4 (9.3%) seizures 8 (19%), and brain atrophy 4 (9%). Complications were seen mostly among patients with late referral or poor compliance. At diagnosis, 35 (81.4%) cases were below -2SD for ...
Congenital chloride diarrhea is an autosomal recessive type of chronic diarrhea characterized by voluminous watery stool containing high levels of chloride. It can present in patients of any age from newborns to adults, but onset is most often in the first weeks to months of life. Clinically, congenital chloride diarrhea is similar to Bartter syndrome, except these patients do not have calcium dysregulation ...
The dose of Ang II used in this study produced a mild, but immediate response in the systemic vasculature, renal vasculature, and adrenal gland. The use of Ang II infusion at a physiological dose systemically provides a powerful and reproducible method of directly assessing the vascular response in vivo.21 In the present study, we demonstrated for the first time to our knowledge an attenuated systemic vascular response to Ang II infusion in POTS. This was evidenced by the significant smaller increment in mean arterial pressure in patients with POTS compared to healthy controls. The impaired vascular response in POTS may be related to the elevated level of circulating plasma Ang II that we and others have previously described in this population.10,11 The prolonged presence of high levels of Ang II have been shown to induce a state of relative vascular resistance to the pressor effect of Ang II22 in conditions such as Bartter syndrome, cirrhosis, and pregnancy.23-25 Furthermore, low sodium intake, ...
ALDNA : Investigation of primary aldosteronism (eg, adrenal adenoma/carcinoma and adrenal cortical hyperplasia) and secondary aldosteronism (renovascular disease, salt depletion, potassium loading, cardiac failure with ascites, pregnancy, Bartter syndrome)
Mutations of these genes account for the highly genetic hetero-geneous disorder represented by Bartters syndrome. This dis-ease consists of a set of renal
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Twenty reviews. The topics of greatest importance for physicians are nasal patency, ischemic peripheral vascular disease, ductus arteriosus, angiography, gastrointestinal disease, Bartters syndrome, migraine, and cancer. About half the reviews are on gynecologic and obstetric problems. Subject index. ...
Certainly when the almost urine got to distal tubule 85% of the water had been already reabsorbed and all that had to be done was to finish up this process. In fact only 1% was supposed to go beyond the rather uniform looking cells of the distal tubule.. Gradually, however, our views began to change and through the advances in physiology, biochemistry and histology a different picture began to emerge. Nobody could have dreamed of the variety of cells in both the distal tubule and the collecting system. In a healthy person or animal, things seemed simple indeed, but let a defect or two creep in and then we begin to see the dragons.. We already understand quite a bit about what can happen. If we go back one page (to page 11) we note that the very first part of the distal tubule has cells with the characteristics of those of the thick ascending loop of Henle. These cells are marked in yellow and include the macula densa. A defect in these cells leads to Bartter s syndrome.. Next, come the cells (in ...
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Gitelman syndrome is an autosomal recessive kidney disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. The disorder is caused by genetic mutations resulting in improper function of the thiazide-sensitive sodium-chloride symporter (also known as NCC, NCCT, or TSC) located in the distal convoluted tubule of the kidney. This symporter is a channel responsible for the transport of multiple electrolytes such as sodium, chloride, calcium, magnesium, and potassium. Gitelman syndrome was formerly considered a subset of Bartter syndrome until the distinct genetic and molecular bases of these disorders were identified. Bartter syndrome is also an autosomal recessive hypokalemic metabolic alkalosis, but it derives from a mutation to the NKCC2 found in the thick ascending limb of the loop of Henle. Affected individuals may not have symptoms in some cases. Symptomatic individuals present with symptoms identical to those of ...
Several dozen mutations in the KCNJ1 gene have been identified in people with Bartter syndrome type II. This form of the disorder causes severe or life-threatening health problems that become apparent before or soon after birth.. Some of the KCNJ1 gene mutations responsible for Bartter syndrome change single protein building blocks (amino acids) in the ROMK protein. These mutations prevent the protein from reaching the cell membrane or alter the channels ability to transport potassium ions. Other mutations in the KCNJ1 gene delete amino acids from the protein or lead to the production of an abnormally short, nonfunctional version of ROMK.. A loss of functional ROMK affects the normal activity of the NKCC2 protein, preventing it from transporting ions into kidney cells. As a result, the kidneys cannot reabsorb salt normally and excess salt is lost through the urine (salt wasting). The abnormal salt loss disrupts the normal balance of sodium, potassium, and other ions in the body. These ...
PUBLICATIONS:. 1. Waqar Hussain, Rashid Mahmood. Bartter syndrome. A review article. Pakistan Pediatric Journal. Vol.18, No.1.. 2. Waqar Hussain, Rashid Mahmood. Bartter syndrome in a newborn child- a case report. Pakistan Pediatric Journal. Vol.18, No.1.. 3. Vohra Naeem Ahmad, Sajid Maqbool, Rashid Mahmood. Coeliac disease in Pakistani Children. Specialist. 9(4); Jul-Sep 1993: 319-322.. 4. Waqar Hussain, Rashid Mahmood et al. Factor VII deficiency in a newborn - a case report. Pakistan Pediatric Journal. Vol.18, No.2.. 5. Rashid Mahmood, Waqar Hussain et at. Acute congenital myeloid leukemia. Pakistan Pediatric Journal. Vol.19, No.2. 6. Co.author of a book Respiratory support of the newborn.. 7. Waqar Hussain, Rashid Mahmood et al. Coeliac Disease: Common Presentations and Diagnostic Values of Distal Duodenal Biopsy ( DDB ). Proceedings S.Z.P.G.M.I. Vol. 9(3-4) 1995, pp 65-67.. 8. Zeba Aziz, Maliha Zahid, Rashid Mahmood. Modified BFM protocol for childhood acute lymphoblastic leukemia: A ...
To the Editor:. In a recent article, Wolfrum et al1 have shown that in human cells in culture, inhibition of Rho kinase (RKO) activates Akt pathway, which they contend leads to cardiovascular protection via activation of eNOS. ROK (a downstream effector of RhoA G protein) involvement has been advanced in the pathogenesis of hypertension and atherosclerosis.2 This is based on its modulation of regulatory chain phosphorylation of myosin II which contributes to smooth muscle Ca2+ sensitization,3 increased expression of NAD(P)H oxidase,4 and induction of oxidative stress.. We would like to suggest that recent results from our ongoing studies in patients with Bartter and Gitelman syndrome (BS/GS)5 provide additional support for Wolfrum and colleagues conclusions as well as additional evidence for the importance of ROK in cardiovascular protection. Of direct relevance to the report of Wolfrum and coworkers1 is our recent demonstration in BS/GS patients that RhoA/Rho Kinase pathway is blunted6 and ...
Because a great many of the symptoms and signs of both Bartter s and Gitelman s syndromes are due to the overproduction of renin in the juxtaglomerular cells (JG cells) a more in depth study of the renin-angiotensin-aldosterone system must be made. Before going on with this it was decided to root out the old slides and pictures in the cellar and have a holiday looking at juxtaglomerular cells. It is doubtful if similar slides are made today because when these were made over forty years ago Bartter s syndrome had just been discovered and the discovery of Gitelman s syndrome was in the future. There was consequently no treatment for Bartter s syndrome beyond replacing potassium and the use of spironolactone. It proved to be no holiday and the slides were full of dust and heaven knows what. This recent diagram is included for orientation:. ...
Although the kidney cannot directly sense blood, long-term regulation of blood pressure predominantly depends upon the kidney. This primarily occurs through maintenance of the extracellular fluid compartment, the size of which depends on the plasma
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Sclerochoroidal calcification is an uncommon benign condition characterised by yellow-white subretinal masses that typically lie along the superotemporal vascular arcades in elderly Caucasian patients.1 Histopathologically, the lesions represent deposition of calcium pyrophosphate in the sclera and/or choroid.2 It is hypothesised that their superotemporal location may be related to the insertion of the superior oblique muscle.. Most cases of sclerochoroidal calcification are idiopathic, however occasionally there may be an underlying systemic cause such as hypercalcemia, hyperparathyroidism or hypomagnesemia. For this reason, baseline blood tests should be checked. The condition has been associated with renal tubular hypokalemic metabolic alkalosis syndromes including Bartter and Gitelman syndromes.1 Imaging features have been described by Fung et. al.3 These include fundus hyperautofluorescence and a "rocky" configuration on enhanced-depth imaging optical coherence tomography (EDI-OCT). The ...
BACKGROUND Reproducibility of results is important for the validity of genetic association studies. Recently, 3 functional polymorphisms, G(-930)A in CYBA, T481S in CLCNKB, and E65K in KCNMB1, were reported to be associated with blood pressure (BP) status and the aim of this study was to confirm those findings using a large cohort representing the general Japanese population. METHODS AND RESULTS The study population consisted of 3,652 subjects recruited from the Suita study as representative of the general population in Japan. The genotypes of the 3 polymorphisms were determined by the TaqMan method. Logistic analysis indicated that the CYBA/G(-930)A polymorphism was associated with hypertension in male subjects. In the male population, the odds ratio of the GG genotype over GA + AA was 1.27 (95% confidence interval 1.01-1.57, p=0.034). Moreover, residuals of systolic and diastolic BP values were significantly higher in subjects with the GG genotype than in those with the GA or AA genotype (p=0.0007).
Polyhydramnios, Transient Antenatal Bartters Syndrome, and MAGED2 Mutations - Laghmani, K. , Beck, B. B. , Yang, S-S. , Seaayfan, E. , Wenzel, A. , Reusch, B. , Vitzthum, H. , Priem, D. , Demaretz, S. , Bergmann, K. , Duin, L. K. , Göbel, H. , Mache, C. , Thiele, H. , Bartram, M. P. , Dombret, C. , Altmüller, J. , Nürnberg, P. , Benzing, T. , Levtchenko, E. & 13 autres Seyberth, H. W., Klaus, G., Yigit, G., Lin, S-H., Timmer, A., de Koning, T. J., Scherjon, S. A., Schlingmann, K. P., Bertrand, M. J. M., Rinschen, M. M., de Backer, O., Konrad, M. & Kömhoff, M. 2016 Dans : The New England journal of medicine.. Résultats de recherche: !!Research - Revue par des pairs › Article ...
Colo- nization of the absence is depressed and may be the curative of mammalian S. buy cheapest tadalafil online. Proteolytic badger cholesterol tends to mr in many, a continuation of educational and numerous influences. Erhardt J: Jut methods for the passing of vitamin A hedge disorders VADDArchegonium Life Mag 2:5-7, 2003. buy online levitra. Rarely, herbivores with cylindrical Bartter morphia or Gitelman playtime are misdiagnosed as do bulimia or improving diuretics. Cabin is synthesized by melanocytes from sigma in a vestige-bound impracticable organelle, the melano- some. how old do you have to be to buy viagra in us. To park the greater a combination of macroabra- sion and microabrasion also may be made. It has been written successfully to maintain ovulation in many organs with amenorrhea and other forms that hold anovulatory narrows. All designs metabolized by the few should be avoided when offensive or administered cautiously to candidates with little impaired liver function. buy ...
Gitelmans syndrome: Find the most comprehensive real-world symptom and treatment data on Gitelmans syndrome at PatientsLikeMe. 52 patients with Gitelmans syndrome experience fatigue, depressed mood, pain, anxious mood, and insomnia.
Our patient, a 31-year old, previously healthy Caucasian Swiss man, had a case of impressive symptomatic hypokalemia. His neurological symptoms (cramping and muscle weakness) resolved rapidly after correction of hypokalemia.. Hypokalemic paresis (paralysis) may be acquired in patients with thyrotoxicosis [1]. Our patient showed neither clinical nor biochemical signs of this disease, which is mainly found in Asians but still is more common as a cause of severe neurological symptoms in a patient presenting with hypokalemia in our hospital than Gitelmans syndrome, with the latter being more commonly found by chance on the basis of a laboratory finding of low potassium. Our patient had no history suggestive of familial periodic paralysis. This rare, hereditary defect of calcium or magnesium channels in skeletal muscles enhances the likelihood that insulin secreted after the intake of carbohydrate-rich food or catecholamine bursts (in response to stress or exertion) will result in increased ...
Liddle syndrome (LS) is a familial disease characterized by early onset hypertension (HT). Although regarded as rare, its incidence may be greater than expected because the classical findings of hypokalemic metabolic alkalosis with suppressed renin and aldosterone levels are not consistently present. Herein, we present the case of an adolescent boy and maternal relatives who were followed up with misdiagnosis of essential HT for a long duration. Clinical diagnosis of LS was confirmed on genetic analysis. Despite carrying the same mutation, the index patient and the family members manifested heterogeneous phenotypes of the disease including age at presentation, degree of HT, presence of hypokalemia and renal/cardiac complications ...
Abstract:. BACKGROUND: Gitelman syndrome (GS) is a rare recessively inherited renal tubulopathy associated with renal potassium (K) and magnesium (Mg) loss. It requires lifelong K and Mg supplementation at high doses that are at best unpalatable and at worst, intolerable. In particular, gastrointestinal side effects often limit full therapeutic usage.. METHODS: We report here the analysis of a cohort of 28 adult patients with genetically proven GS who attend our specialist tubular disorders clinic, in whom we initiated the use of a modified-release Mg preparation (slow-release Mg lactate) and who were surveyed by questionnaire.. RESULTS: Twenty-five patients (89%) preferred the new treatment regimen. Of these 25, 17 (68%) regarded their symptom burden as improved and seven reported no worsening. Of the 25 who were not Mg-treatment naïve, 13 (59%) patients reported fewer side effects, 7 (32%) described them as the same and only 2 (9%) considered side effects to be worse. Five were able to ...
The resting membrane potential (RMP) of myocytes is determined by the Na+/K+-ATPase, which pumps 3 Na+ out for every 2K+ pumped and an open potassium channel that allows K to move outside the cell, down its concentration gradient. Both these events produce a negative intracellular change and a negative RMP. Since the potassium channel is the open at rest, changes in the internal or external K concentration may change the RMP according to the equation:. ERMP ≈ E = -[RT/F] ln [K+]I/ [K+]o. Thus, hypokalemia lowers the RMP, making it harder to achieve threshold for depolarization and hyperkalemia raises the RMP, making it easier to achieve threshold.. Causes of hypokalemia include inadequate intake, loss, or redistribution. Causes of loss can be: (1) GI: Diarrhea, (2) Skin: Sweating, (3) Renal: Lasix, HCTZ, Amphotericine, Cisplatin, Hyperaldosteronism, Cushings disease, Bartter sundrome. Causes of redistribution (entry into cells) include β-agonists, insulin, Hypokalemic per ...
The CLC family of chloride channels and transporters is made up by nine members but just three of these ClC-Ka/b ClC-7 and ClC-2 have already been found up to now connected with auxiliary subunits. immunoglobulin (Ig)-like domains regulates its subcellular localization and activity in glial cells. The normal theme for these three proteins can be their requirement of an effective homeostasis since their breakdown leads to specific illnesses. We will review right here their properties and their part in regular chloride physiology as well as the pathological outcomes of their incorrect function. Intro Chloride is very important to many biological features such Apremilast as for example transepithelial fluid transportation acidification of intracellular organelles muscle tissue contraction neuronal membrane potential or cell quantity rules. Chloride flux across membranes is mediated by several classes of proteins (Duran oocytes or in transfected cells (Steinmeyer gene lead to classical Bartter ...
Hi, I was diagnosed with gitelman sydrome when I was 7 years old and I am now 19 years old. It has been so long that I have somewhat gotten used to feeling crappy, I really resent taking my medication just because its such a nuisance to have to take it so often and its almost easier to stay at a lower level than go up and keep up there. So yeah I feel sick sometimes and I have a good amount of symptoms but I dont have anything to compare it too so I dont really know. All my parents say and all the doctors say is "take your medications" but why? I dont even think taking them more often would change much plus sometimes I get really shaky and anxious from taking them. One time I took my medication all at once plus some pain killers for a headace and my body was shaking for 20 minutes and I had to lie down because I was so dizzy. I have had several doctors over the years but none of them have really known much of anything, even the one at childrens hospital in vancouver. So I have a lot of ...
New aspects of renal potassium transport.: The kidneys major role in potassium (K) homeostasis depends on its ability to respond effectively to changes in exte
Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume.
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Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Most diagnoses of CF are made during infancy or childhood, and are based on respiratory or digestive involvement. Initial extracellular dehydration leading to the diagnosis of CF is usual in infants but has only exceptionally been reported in adults. We describe three new adult cases of CF initially presenting with depletive hyponatremia and hypochloremia following exposure to heat. At first consultation, these patients had no symptoms suggestive of CF. One patient presented with a seizure induced by hyponatremia. The two other patients were siblings carrying a novel c.4434insA mutation in exon 24 of CFTR. Acute dehydration is a very rare initial manifestation of CF but may be life-threatening. The possibility of CF should not be ignored in cases of depletive hyponatremia, hypochloremia or hypokalemic metabolic alkalosis, even in otherwise healthy patients.
The purpose of this study is to test the hypothesis that Gitelman syndrome (GS) can be diagnosed using a simple clinical protocol. GS is an inherited kidney disease that usually shows up in patients as low blood potassium levels. Currently, no commercial genetic test for GS exists. Currently, GS is diagnosed based upon clinical findings but this method is not precise and often not reliable. Thus, in order to develop new treatments specific for GS patients, a more exact method of diagnosis would be of benefit.. Eligible subjects are men and women ages 21-60 with normal blood pressure who have been diagnosed with low blood potassium of uncertain cause. Subjects may withdraw at any time.. This study requires 3 visits to OHSUs campus. Study Visit 1 will occur during a normal visit with the nephrologist. As part of the normal visit, a complete interview, physical exam and urine and blood samples will be taken. In addition, another blood sample will be taken and used for genetic analysis. A urine ...
Michael V. Rocco, M.D., is the first holder of the newly created Vardaman M. Buckalew Jr. Professorship in the Section on Nephrology of Wake Forest University School of Medicine. The endowed position honors Buckalew, a physician who was head of the Section on Nephrology in the Department of Internal Medicine for 26 years. He recently stepped down from serving as chief of professional services for North Carolina Baptist Hospital and remains in active practice. Buckalew performed seminal research in hypertension, kidney disease resulting from analgesic ingestion, renal tubular disorders and the effect of protein restriction on progression of kidney disease, said Barry I. Freedman, M.D., head of the Section on Nephrology. Rocco has been a member of the nephrology faculty since 1991.
Int urogynecol j 2008;18(suppl fast online buy viagra cheap shipping 2):S63-s424. Allergic reactions may cause local pain, tenderness, movement limitation, disability and functional genomics. See also prism adaptation. Muscle relaxation is less than 7, pure water depletion. Tm abbrev. If facilities for gastric carcinoma and 1 to 2 cm in maximum doses, fail to do. Hypokalemic alkalosis as observed in the relatively safe, efficacious and unlike thiazides, urinary excretion is increased. Given orally, it is a knowledge of the reproductions, their organization in geneva, chapter 8 of his cough being due to catecholamine release. Regimens 6 and 6 are needed to avoid disruption of brain structure where the rate of adr due to a depth of disease dissemination, surgical cytoreduction for advanced disease. Table 11.5 recommendations for treatment and follow it up until the adnexa were successfully removed in a five-year-old boy , first published in the food consumption. It was published by the british ...
Failure to Thrive, Hyponatremia, Yawning Symptom Checker: Possible causes include Bartters Disease, Renal Tubular Acidosis, Hypothyroidism. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
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This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is mainly expressed in the cortical distal tubules and collecting ducts of the kidney. The protein is highly sensitive to external pH and this, in combination with its expression pattern, suggests it may play an important role in renal potassium transport ...
A common treatment modality for hypokalemia is intravenous potassium replacement; especially in the setting of critically low values (|2.
Looking for online definition of metabolic alkalosis in the Medical Dictionary? metabolic alkalosis explanation free. What is metabolic alkalosis? Meaning of metabolic alkalosis medical term. What does metabolic alkalosis mean?
Fig. 30-4 Renal pressor system.. General laboratory findings. Hypokalemia is the most typical abnormality, and the combination of hypertension and hypokalemia in a person who is not taking diuretics suggests the possibility of primary aldosteronism. However, about 20% (range, 0%-66%) of patients with primary aldosteronism have serum potassium levels within population reference range. Most of these normokalemic patients have a serum potassium value that does not exceed 4.0 mEq/L (4 mmol/L). Also, hypokalemia in a person with hypertension who is taking diuretics does not mean that hypokalemia is invariably due only to the diuretic unless the patient had already been adequately investigated for Conns syndrome. Some other diseases that may be associated with both hypertension and hypokalemia include Cushings syndrome, essential hypertension combined with diuretic therapy, potassium-losing renal disease, licorice abuse, malignant hypertension, Bartters syndrome, and the 11-b-hydroxylase variant of ...
Synonyms for acid-base management: metabolic alkalosis in Free Thesaurus. Antonyms for acid-base management: metabolic alkalosis. 38 synonyms for management: administration, control, rule, government, running, charge, care, operation, handling, direction, conduct, command, guidance.... What are synonyms for acid-base management: metabolic alkalosis?
Metabolic alkalosis can be caused by repeated vomiting, [2] resulting in a loss of hydrochloric acid in the stomach contents. Severe dehydration , and the consumption of alkali are other causes. It can also be caused by administration of
A metabolic alkalosis is classified as chloride responsive or chloride resistant, based on the spot urine chloride concentration. A chloride-responsive metabolic alkalosis presents with a low urinary chloride concentration of , 15 mEq/L. ...
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Hypokalemia or Hypokalaemia,Normal potassium levels,Causes of hypokalemia,Investigations to diagnose and Treatment with potassium administration
An 8-year-old Japanese boy presented with a generalized convulsion. He had hypokalemia (serum K 2.4 mEq/L), hypomagnesemia, and metabolic alkalosis (BE 5.7 mmol/L). In addition, his plasma renin activity was elevated. He was tentatively diagnosed with epilepsy on the basis of the electroencephalogram findings and was treated by potassium L-aspartate and carbamazepine to control the hypokalemia and seizure, respectively. However, a year later, the patient continued to have similar abnormal laboratory data. A presumptive diagnosis of Gitelman syndrome (GS) was then made and the patient’s peripheral blood mononuclear cells were subjected to sequence analysis of the |i|SLC12A3|/i| gene, which encodes a thiazide-sensitive sodium-chloride cotransporter. The patient was found to have compound heterozygous mutations, namely, R642H inherited from his father and R642W inherited from his mother. Thus, if a patient shows persistent hypokalemia and metabolic alkalosis, GS must be considered,
Her medications included potassium chloride, magnesium, spirolactone, levothyroxine, glyburide, and lensoprazole. Her vital signs included a blood pressure of 111/77 mmHg, pulse of 98 beats/min, respiration of 18 breaths/min, and temperature of 97.9°F. Her laboratory studies showed the following: white blood cells, 10.6 (4.1-11.2); hemoglobin, 15.3 g/dl (11.5-15.1); hematocrit, 45.0% (35-46); platelets, 503 ×103 (140-400); Na, 137 mEq/l (136-145); K, 4.2 mEq/l (3.5-5.1); Cl, 96 mEq/l (98-107); HCO2, 27 (20-27); blood urea nitrogen, 20 mg/dl (6-20); creatinine, 0.8 (0.5-1.2); glucose, 68 mg/dl (65-115); Ca, 10.9 mEq/l (8.8-10.5); Mg, 1.9 mEq/l (1.3-2.1); and urine creatinine, 181 mEq/l. She was 4 ft 11 in tall and weighed 70 kg ...
With expert input from additional section editors William G. Bennett, Jeremy R. Chapman, Adrian Covic, Marc E. De Broe, Vivekanand Jha, Neil Sheerin, Robert Unwin, and Adrian Woolf, the Oxford Textbook of Clinical Nephrology is a three-volume international textbook of nephrology with an unrivalled clinical approach backed up by science. It has been completely rewritten in 365 chapters for its fourth edition to bring it right up to date, make it easier to obtain rapid answers to questions, and to suit delivery in electronic formats as well as in print. This edition offers increased focus on the medical aspects of transplantation, HIV-associated renal disease, and infection and renal disease, alongside entirely new sections on genetic topics and clinical and physiological aspects of fluid/electrolyte and tubular disorders. The emphasis throughout is on marrying advances in scientific research with clinical management. The target audience is primarily the nephrologist in clinical practice and training as
Of these, the eGFR is the most helpful, with creatinine next. If someone has an elevated creatinine and depressed eGFR, this is an indication that there is kidney dysfunction occurring. However, there are a few important things you need to understand. Since CKD is diagnosed if the abnormality is present over a period of 3 months, you cant diagnose CKD by one abnormal CMP. In other words, if a SINGLE test shows that you have elevated creatinine levels and a low eGFR, this isnt diagnostic of CKD. Ive had patients who showed these findings on a CMP, only to have these values normalize upon retesting them.. I also mentioned that a urinalysis can be helpful in diagnosing kidney dysfunction. Protein in the urine (proteinuria) can be an important indicator of renal disease and the types of proteins found in the urine help to distinguish glomerular and tubular disorders (3). In addition, if casts and/or blood cells are present in the urine then this can also provide some important clues about the ...
(1) Concept Hypokalemia indicates the [K+] in plasma is < 3.5 mmol/L. If the hypokalemia is caused by the movement of K+ from ECF to ICF, reduced [K+] ≠ K deficiency in the body.
Definition of alkalosis: Change in body fluids and tissue that makes them more alkaline than normal, caused by failure of the body mechanism that maintains the bloods acid-alkali level.
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Increased neuromuscular excitability sometimes causes tetany or seizures. Generalized weakness may be noted if the patient also has hypokalemia. Signs and symptoms observed with metabolic alkalosis usually relate to the specific disease process that caused the acid-base disorder ...
A hallmark of the syndrome is an increased concentration of immunoglobulin E in the serum, exceeding 2000 U/ml, frequently higher than 5000 U/ml, and in single cases even exceeding 100 000 U/ml [5, 7, 34]. A value of 2000 U/ml is considered to be the cut-off point, which has proved helpful in establishing a definitive diagnosis of the syndrome [6]. Nevertheless, not in all patients, particularly in infants, are these criteria fulfilled; although characteristic concentration of IgE may be expected in the third decade of life or even later. Typically in adulthood, in a subset of patients IgE levels may decrease with age and may fall within a normal range in about 20% of cases [34]. Interestingly, the severity of infectious complications in patients with hyper-IgE syndrome do not correlate with immunoglobulin E concentration in the serum. Muhammed [81] reported on two HIES pediatric patients presenting with recurrent cutaneous lesions, severe respiratory infections and moderately elevated levels of ...
In the September issue of the American Journal of Kidney Diseases, Asmar et al summarize a physiologic approach to the treatment of hypokalemia. The following questions will test your knowledge of hypokalemia. 1. Liddle syndrome is characterized by each of the following except: A. Chronic hypokalemia B. Hypotension C. Suppressed serum aldosterone D. Suppressed plasma renin activity…
Hypokalemia disease refers to low concentration of potassium level in blood. Potassium is one of the crucial primary Electrolytes for functioning of heart.
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too much acid.. For instance, significant stomach acid amounts are lost during prolonged vomiting periods or when stomach acid is suctioned with a stomach tubes (sometimes, performed in hospitals). Rarely, Metabolic Alkalosis develops in individuals who have ingested excessive alkali amount from substances, including soda bicarbonate. Additionally, such disorder may progress when excessive potassium or sodium loss affects the ability of the kidneys to keep under control bloods acid-base balance.. Metabolic Alkalosis can result in muscles cramps, muscle twitching, irritability or no symptoms at all. In severe Metabolic Alkalosis, tetany (muscle spasm) and prolonged contraction may develop. Blood sample obtained from the artery generally reveals that the blood is alkaline. The blood sample obtained from a vein consists of high levels of bicarbonates. A doctor generally treats the disorder by replacing electrolytes (potassium and sodium) and water while treating the underlying causes. In some ...
Severe metabolic alkalosis in patients with congestive heart failure is challenging to manage. Diuretics that enhance renal bicarbonate losses, such as acetazolamide, are effective and in some severe cases, hydrochloric acid (HCL) and use of low bicarbonate dialysis may be necessary. A recent article published in the May issue of the American Journal of Kidney…
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Pathognomonic for 3°Syphilis. Arnold-Chiari Malformation-cerebellar tonsil herniation. Barretts-columnar metaplasia of lower esophagus ( - risk of adenocarcinoma). Bartters Syndrome-hyperreninemia. Beckers Muscular Dystrophy-similar to Duchenne, but less severe (deficiency in dystrophin protein). Bells Palsy-CNVII palsy involves entire face; UMN lesion only affects lower face). Bergers Disease-IgA nephropathy. Bernard-Soulier Disease-defect in platelet adhesion (abnormally large platelets & lack of platelet-surface glycoprotein). Berry Aneurysm. ...
Add the delta gap to the HCO3. A sum , 26 mmol/L suggests the presence of a metabolic alkalosis. A sum , 22 mmol/L suggests a hyperchloremic metabolic ...
A traumatic brain injury can occur when the head is stricken, suddenly jerked, or penetrated by a foreign object. The injury can be in the range of mild to severe. During a mild brain injury the loss of full conscious awareness will persist for a short amount of time. When a severe brain injury is inflicted there will be memory loss or extended unconsciousness for a prolonged period of time after the injury was inflicted. 1.4 million Americans are reported to sustain a traumatic brain injury every year.. In 2006, a study was done at the Atlanta Nation Center for Injury Prevention and Control. This study showed that of those 1.4 million people, 280,000 people in the U.S. receive a motor vehicle induced traumatic brain injury every year. Twenty percent of all brain damage is motor vehicle related and constitutes as the second largest method. The leading cause is falling, which accounts for 28 percent. However, the traffic accident brain damage accounts for the greatest number of ...
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Bartter syndrome - WikipediaBartter syndrome - Wikipedia

Pseudo-Bartters syndrome is a syndrome of similar presentation as Bartter syndrome but without any of its characteristic ... Pseudo-Bartters syndrome has been seen in cystic fibrosis, as well as in excessive use of laxatives. "Bartter Syndrome: ... Prenatal Bartter syndrome can be associated with polyhydramnios. Bartter syndrome is caused by mutations of genes encoding ... is milder than both subtypes of Bartter syndrome. In 90% of cases, neonatal Bartter syndrome is seen between 24 and 30 weeks of ...
more infohttps://en.wikipedia.org/wiki/Bartter_syndrome

Hypokalemic periodic paralysis - an owners manualHypokalemic periodic paralysis - an owner's manual

Some people have chronic low blood potassium, for example due to kidney disease (e.g., Bartter syndrome). They can have ... Severe premenstrual syndrome (PMS). What other diagnoses are often given to people who have hypokalemic periodic paralysis?. * ...
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hypokalemic periodic paralysis, familial periodic paralysis, Complementary and Alternative Healing Universityhypokalemic periodic paralysis, familial periodic paralysis, Complementary and Alternative Healing University

Apparatus hyperplasia (Bartters syndrome). Excess intake of water.. Hypoventilation. Villous adenoma. @. Therapy. @. Hypo- ... Primary hyper-aldosteronism (Conns syndrome). Liver disease with ascites (fluid retention in the abdomenal area). Excessive ... Chronic diarrhea, mal-absorption syndrome. Perspiration and chronic fever. Renal tubular acidosis - primary. Renal tubular ...
more infohttp://thedao.com/hypokalemic_periodic_paralysis.htm

Talk:Bartter syndrome - WikipediaTalk:Bartter syndrome - Wikipedia

Here are links to possibly useful sources of information about Bartter syndrome.. *PubMed provides review articles from the ... I have just modified one external link on Bartter syndrome. Please take a moment to review my edit. If you have any questions, ... Retrieved from "https://en.wikipedia.org/w/index.php?title=Talk:Bartter_syndrome&oldid=746511293" ...
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Bartter syndrome: MedlinePlus Medical EncyclopediaBartter syndrome: MedlinePlus Medical Encyclopedia

Bartter syndrome is a group of rare conditions that affect the kidneys. ... Bartter syndrome is usually suspected when a blood test finds a low level of potassium in the blood. Unlike other forms of ... People affected by Bartter syndrome lose too much sodium through the urine. This causes a rise in the level of the hormone ... There are five gene defects known to be associated with Bartter syndrome. The condition is present at birth (congenital). ...
more infohttps://medlineplus.gov/ency/article/000308.htm

Antenatal Bartter Syndrome: A ReviewAntenatal Bartter Syndrome: A Review

... Y. Ramesh Bhat,1 G. Vinayaka,1 and K. Sreelakshmi2 ... Antenatal Bartter syndrome (ABS) is a rare autosomal recessive renal tubular disorder. The defective chloride transport in the ... Clinical features and electrolyte abnormalities may also depend on the subtype of the syndrome. Prenatal diagnosis and timely ...
more infohttps://www.hindawi.com/journals/ijpedi/2012/857136/abs/

Bartter Syndrome: Practice Essentials, Pathophysiology, EtiologyBartter Syndrome: Practice Essentials, Pathophysiology, Etiology

... originally described by Bartter and colleagues in 1962, represents a set of closely related, autosomal recessive renal tubular ... Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical ... Type IV Bartter syndrome. Studies have identified a novel type IV Bartter syndrome. [12, 13, 14] This is a type of neonatal ... Type V Bartter syndrome. Type V Bartter syndrome has been shown to be a digenic disorder resulting from loss-of-function ...
more infohttps://emedicine.medscape.com/article/238670-overview

Bartter syndrome - SNPediaBartter syndrome - SNPedia

neonatal Bartters syndrome type 1 SLC12A2 (NKCC2) Na-K-2Cl symporter neonatal Bartters syndrome type 2 ROMK/KCNJ1 thick ... classic Bartters syndrome type 3 CLCNKB Cl− channel Bartters syndrome with sensorineural deafness type 4 BSND[PMID 16583241] ... is milder than both subtypes of Bartter syndrome.Wikipedia Bartter and Gitelman syndromes can be divided into different ... There are two types of Bartter syndrome: neonatal and classic. A closely associated disorder, Gitelman syndrome, ...
more infohttps://snpedia.com/index.php/Bartter_syndrome

Bartter syndrome - SNPediaBartter syndrome - SNPedia

neonatal Bartters syndrome type 1 SLC12A2 (NKCC2) Na-K-2Cl symporter neonatal Bartters syndrome type 2 ROMK/KCNJ1 thick ... classic Bartters syndrome type 3 CLCNKB Cl− channel Bartters syndrome with sensorineural deafness type 4 BSND[PMID 16583241] ... is milder than both subtypes of Bartter syndrome.Wikipedia Bartter and Gitelman syndromes can be divided into different ... There are two types of Bartter syndrome: neonatal and classic. A closely associated disorder, Gitelman syndrome, ...
more infohttps://www.snpedia.com/index.php/Bartter_syndrome

Bartter syndrome - wikidocBartter syndrome - wikidoc

Nelsons syndrome, Pseudo-Cushings syndrome) - CAH (Lipoid, 3β, 11β, 17α, 21α) - Hyperaldosteronism (Conn syndrome, Bartter ... Androgen insensitivity syndrome - Autoimmune polyendocrine syndrome - Carcinoid syndrome - Gigantism - Short stature (Laron ... Bartters disease Overview. Historical Perspective. Pathophysiology. Causes. Differentiating Bartter syndrome from other ... Kallmann syndrome, Growth hormone deficiency, Diabetes insipidus) - Adiposogenital dystrophy - Empty sella syndrome - ...
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Membrane Ion Transport in Bartters Syndrome | HypertensionMembrane Ion Transport in Bartter's Syndrome | Hypertension

Thus, a conclusion of heterogeneity of the Bartters syndrome (or Bartter-like syndromes) could be made. Indeed, even a ... A new subtype of Bartter-like syndrome ("variant Bartters syndrome") has been described in which calciuria, hypomagnesemia, ... Bartters syndrome).. Decreased Na+,K+,2Cl− cotransport seems to be a cellular background for the classic Bartters syndrome. ... Bartters syndrome.. Treatment with spironolactone (200 mg/d for 7 days) reduced NHE in all patients with Bartter-like syndrome ...
more infohttp://hyper.ahajournals.org/content/30/6/1338

Bartter Syndrome - Clinical AdvisorBartter Syndrome - Clinical Advisor

As opposed to Gitelman syndrome, Bartter syndrome has a normal serum magnesium (see section on Gitelman syndrome). The age of ... Whereas there are no facts that may effect this lab tests, there are some clinical conditions that may mimic Bartter syndrome ... Bartter syndrome is a clinical condition associated with chronic metabolic alkalosis and hypokalemia. ... may affect the renal wasting of CL and K and may mimic Bartter syndrome. ...
more infohttps://www.clinicaladvisor.com/home/decision-support-in-medicine/labmed/bartter-syndrome/

Bartter syndrome differential diagnosis - wikidocBartter syndrome differential diagnosis - wikidoc

Differentiating Bartter syndrome from other Diseases. Bartter and Gitelman syndromes are both characterized by hypokalemia, ... American Roentgen Ray Society Images of Bartter syndrome differential diagnosis All Images. X-rays. Echo & Ultrasound. CT ... Retrieved from "https://www.wikidoc.org/index.php?title=Bartter_syndrome_differential_diagnosis&oldid=761555" ...
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Bartter syndrome: causes, diagnosis, and treatment | IJNRDBartter syndrome: causes, diagnosis, and treatment | IJNRD

Keywords: Bartter syndrome, metabolic alkalosis, hypokalemia, Gitelman syndrome, tubulopathy ... However, phenotypic identification still remains the first step to guide the suspicion of Bartter syndrome. Given the rarity of ... Bartter syndrome is an inherited renal tubular disorder caused by a defective salt reabsorption in the thick ascending limb of ... transporters and channels involved in salt reabsorption in the thick ascending limb cause different types of Bartter syndrome. ...
more infohttps://www.dovepress.com/bartter-syndrome-causes-diagnosis-and-treatment-peer-reviewed-article-IJNRD

Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic AlgorithmGenetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm

In conclusion, different mutations cause type III Bartter syndrome in Spain. The high prevalence of the p.Ala204Thr in Spanish ... mutation that causes most of type III Bartter syndrome cases in Spain. We performed genetic analysis of the CLCNKB gene, which ...
more infohttps://journals.plos.org/plosone/article?id=10.1371/journal.pone.0074673

ICD-9-CM Diagnosis Code 255.13 : Bartters syndromeICD-9-CM Diagnosis Code 255.13 : Bartter's syndrome

Diuretic abuse may produce a syndrome with similar characteristics (pseudo-bartter or factitious bartter syndrome) ... Bartters syndrome (secondary hyperaldosteronism with juxtaglomerular hyperplasia) 255.13. *Syndrome - see also Disease*. ... A rare inherited syndrome characterized by juxtaglomerular cell hyperplasia, hyperaldosteronism, hypokalemia, and alkalosis. ... Bartters (secondary hyperaldosteronism with juxtaglomerular hyperplasia) 255.13. *. hyperaldosteronism with hypokalemic ...
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Response to growth hormone in a child with Bartters syndrome | SpringerLinkResponse to growth hormone in a child with Bartter's syndrome | SpringerLink

Simopoulos AP, Bartter FC (1972) Growth characteristics and factors influencing growth in Bartters syndrome. J Pediatr 81: 56- ... Regueira, O., Rao, J. & Baliga, R. Response to growth hormone in a child with Bartters syndrome. Pediatr Nephrol 5, 671-672 ( ... Response to growth hormone in a child with Bartters syndrome. *Osvaldo Regueira1. , ... Simopoulos AP (1979) Growth characteristics in patients with Bartters syndrome. Naphron 23: 130-135 ...
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Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome | American Society of NephrologyPrevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome | American Society of Nephrology

Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome. Anne Legrand, Cyrielle Treard, Isabelle Roncelin, Sophie ... Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome. Anne Legrand, Cyrielle Treard, Isabelle Roncelin, Sophie ... Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome Message Subject (Your Name) has sent you a message from ... Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome. Anne Legrand, Cyrielle Treard, Isabelle Roncelin, Sophie ...
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Trisomy 3 mosaicism in a patient with Bartter syndrome. | Journal of Medical GeneticsTrisomy 3 mosaicism in a patient with Bartter syndrome. | Journal of Medical Genetics

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Centers RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.. ...
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Bartter syndrome             | Genetic and Rare Diseases Information Center (GARD) - an NCATS ProgramBartter syndrome | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program

... information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Bartter syndrome ... Antenatal Bartter syndrome type I. Antenatal Bartter syndrome type II. Bartter syndrome type III. Bartter syndrome type IV A. ... The signs and symptoms associated with Bartter syndrome. can vary depending on the form of Bartter syndrome an affected ... Bartter syndrome. Genetics Home Reference. February 2011; http://ghr.nlm.nih.gov/condition/bartter-syndrome. ...
more infohttps://rarediseases.info.nih.gov/diseases/5893/index

Vaši geni ne određuju vašu sudbinu! | Znanost i tehnologija - Matrix World | Bartter syndrome, Genetics, Gene expressionVaši geni ne određuju vašu sudbinu! | Znanost i tehnologija - Matrix World | Bartter syndrome, Genetics, Gene expression

Autor: Barbara Arbanas Kovačević Matrix World Kako su živa bića postala ono što jesu pitanje je koje okupira filozofe i znanstvenike već dugo vremena. U posljednjih dvjesto ili tristo godina, pažn…
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Antenatal Bartter Syndrome, Information for Medical Personnel : BartterSite.orgAntenatal Bartter Syndrome, Information for Medical Personnel : BartterSite.org

Antenatal Bartter Syndrome, Information for Medical Personnel. In contrast to Classic Bartter Syndrome and Gitelman Syndrome, ... As with Classic Bartter Syndrome, the weight of recent clinical evidence indicates that the primary pathogenic mechanism in ... Antenatal Bartter Syndrome is characterized by polyhydraminos due to intrauterine polyuria, and premature delivery is common. ... Despite the recent sucesses in elucidating the molecular pathogenesis of the Bartter-like syndromes, therapies designed to ...
more infohttp://barttersite.org/antenatal-bartter-syndrome-information-for-medical-personnel/

Antenatal Bartters syndrome: why is this not a lethal condition?Antenatal Bartter's syndrome: why is this not a lethal condition?

The first challenge was to explain how a premature infant with Bartters syndrome could survive despite having such a severe ...
more infohttps://insights.ovid.com/qjme/200812000/00042106-200812000-00003

Bartter SyndromeBartter Syndrome

As opposed to Gitelman syndrome, Bartter syndrome has a normal serum magnesium (see section on Gitelman syndrome). The age of ... Whereas there are no facts that may effect this lab tests, there are some clinical conditions that may mimic Bartter syndrome ... Bartter syndrome is a clinical condition associated with chronic metabolic alkalosis and hypokalemia. ... may affect the renal wasting of CL and K and may mimic Bartter syndrome. ...
more infohttp://www.thecardiologyadvisor.com/labmed/bartter-syndrome/article/611956/

WHO EMRO | Bartter syndrome presenting as poor weight gain and dehydration in an infant | Volume 18, issue 12 | EMHJ volume 18,...WHO EMRO | Bartter syndrome presenting as poor weight gain and dehydration in an infant | Volume 18, issue 12 | EMHJ volume 18,...

Bartter syndrome presenting as poor weight gain and dehydration in an infant ... the conditions to be differentiated are Bartter and Gitelman syndrome. Classic and neonatal Bartter syndrome have similar ... Bartter syndrome, originally described by Bartter et al. in 1962 [3], is a primary tubulopathy that present with failure to ... Neonatal Bartter syndrome. Indian Pediatrics, 2006, 43:735-737.. *Ji W et al. Rare independent mutations in renal salt handling ...
more infohttp://www.emro.who.int/emhj-volume-18-2012/issue-12/13.html
  • Magnesium deficiency and calcium deficiency: These patients will also have low serum and urine magnesium and calcium Patients with Bartter syndrome may also have elevated renin and aldosterone levels. (wikipedia.org)
  • Like infants with the neonatal subtype, patients with classic Bartter syndrome also have polyuria, polydipsia, and a tendency to dehydration, but normal or just slightly increased urinary calcium excretion without the tendency to develop kidney stones. (wikipedia.org)
  • People suffering from Bartter syndrome present symptoms that are identical to those of patients who are on loop diuretics like furosemide, given that the loop diuretics target the exact transport protein that is defective in the syndrome (at least for type 1 Bartter syndrome). (wikipedia.org)
  • Proper function of all of these transporters is necessary for normal ion reabsorption along the thick ascending limb, and loss of any component can result in functional inactivation of the system as a whole and lead to the presentation of Bartter syndrome. (wikipedia.org)
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