Genetic defects involving aquaporin genes have been associated with several human diseases including nephrogenic diabetes insipidus and neuromyelitis optica. (wikipedia.org)
Destruction of the paraventricular or supraoptic nuclei or of the posterior pituitary by tumor, pressure, or surgical ablation results in decreased ADH secretion and AVP deficiency (AVP-D) . Alternatively, diabetes insipidus may be idiopathic or inherited as either an autosomal dominant or an autosomal recessive trait (locus 20p13). (medscape.com)
AVP resistance (AVP-R) (nephrogenic diabetes insipidus) arises from defective or absent receptor sites at the cortical collecting duct segment of the nephron (X-linked, vasopressin V2 receptor deficiency, locus Xq28) or defective or absent aquaporin, the protein that transports water at the collecting duct (autosomal recessive, locus 12q13). (medscape.com)
Diabetes insipidus is a rare condition, with classic signs of clinical presentation and are polyuria and polydipsia, presented by excessive fluid intake, absence or resistance to the action of antidiuretic hormone, below is a topic review will be made explaining the pathophysiological characteristics of this disease, its diagnosis and treatment. (crimsonpublishers.com)
central diabetes insipidus family is presented by mutations in the coding for ADH, which is located chromosome 20p13 in with an autosomal dominant pattern of inheritance, clinical presentation may be from infancy to adult [3,5]. (crimsonpublishers.com)
In a retrospective study, conducted in Peru in pediatric population was observed that the most common cause of central diabetes insipidus intracranial tumors were at 55.7%, then of Langerhans Cell Histiocytosis with 13.9% and malformations brain with 8.9% and 17.7% idiopathic causes [7,8]. (crimsonpublishers.com)
Sporadic mainly occurs by hyperglycemia, which causes osmotic diuresis, inverting the gradient across the renal tubule, diabetes insipidus family is linked to the X chromosome, specifically there alteration in Xq28, and its most severe clinical presentation it occurs during lactation [5,9,10]. (crimsonpublishers.com)
Nephrogenic diabetes insipidus (NDI) is an inability to concentrate urine due to impaired renal tubule response to vasopressin (ADH), which leads to excretion of large amounts of dilute urine. (msdmanuals.com)
Дефіцит аргінін- вазопресину (центральний нецукровий діабет) Diabetes insipidus results from a deficiency of vasopressin (antidiuretic hormone [ADH]) due to a hypothalamic-pituitary disorder (central diabetes insipidus) or from resistance of the kidneys. (msdmanuals.com)
The placenta can secrete vasopressinase during the 2nd half of pregnancy (a syndrome called gestational diabetes insipidus). (msdmanuals.com)
AQP21
One member, CAMK2δ (CAMK2D), has been proposed to be involved in vasopressin signaling in the renal collecting duct, which controls water excretion through regulation of the water channel aquaporin-2 (AQP2). (bvsalud.org)
Vasopressin2
The data show that tolvaptan inhibits the expression of mRNAs that were previously shown to be increased in response to vasopressin including aquaporin-2, but also reveals mRNA changes that were not readily predictable and suggest off-target actions of tolvaptan. (bvsalud.org)
In general, vasopressin is a nonapeptide consisting of a six-amino-acid ring with a cysteine 1 to cysteine 6 disulfide bridge or an octapeptide containing a CYSTINE. (lookformedical.com)
Autosomal recessive2
AVP-D with diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome) may be inherited in an autosomal recessive pattern (locus 4p16) or may be due to mitochondrial deletions. (medscape.com)
In rare cases, NDI is caused by an autosomal recessive or autosomal dominant mutation that affects the aquaporin-2 gene and can affect both males and females. (msdmanuals.com)
Renal3
Aquaporin-2 is involved in the transportation of water in the renal tubules. (medscape.com)
Simultaneously, renal effects associated with lithium administration, including polyuria and nocturia, were increasingly reported. (medscape.com)
También se discuten las perspectivas futuras con respecto a la evaluación y el diagnóstico temprano de lesión renal en estos pacientes. (revistanefrologia.com)
Gene1
In Cri-Du-Chat syndrome (5p deletion), the genetic basis of the phenotype is haploinsufficiency for the telomerase reverse transcriptase gene ( TERT ), which is included in the deleted part of chromosome 5. (dorak.info)
Proteins4
Aquaporins, also called water channels, are channel proteins from a larger family of major intrinsic proteins that form pores in the membrane of biological cells, mainly facilitating transport of water between cells. (wikipedia.org)
Ca2+/Calmodulin-dependent protein kinase 2 (CAMK2) family proteins are involved in regulation of cellular processes in a variety of tissues including brain, heart, liver and kidney. (bvsalud.org)
The concept does not include proteins found in vegetables for which VEGETABLE PROTEINS is available. (lookformedical.com)
Tissues2
However, because water is a polar molecule this process of simple diffusion is relatively slow, and in tissues with high water permeability the majority of water passes through aquaporin. (wikipedia.org)
Water moves through cells in an organized way, most rapidly in tissues that have aquaporin water channels. (wikipedia.org)
Protein3
The PC1/2 protein complex may also directly regulate a number of cellular functions including the cell cycle, the actin cytoskeleton, planar cell polarity (PCP), and cell migration. (basicmedicalkey.com)
This protein complex has also been implicated in regulating a number of signaling pathways, including Wnt, mammalian target of rapamycin (mTOR), STAT3, cMET, phosphoinositide 3-kinase (PI3K)/AKT, G protein-coupled receptor (GPCR), and epidermal growth factor receptor (EGFR), as well as in the localization and activity of cystic fibrosis transmembrane conductance (CFTR). (basicmedicalkey.com)
Increased cAMP promotes protein kinase A activity, among other effectors, and, in turn, leads to cyst growth by promoting proliferation and fluid secretion of cyst-lining cells through chloride and aquaporin channels in ADPKD kidneys. (basicmedicalkey.com)
Polyuria2
Primary polydipsia occurs because the amount of liquid ingested by the patient is much higher than the requirement hypersensitivity center thirst, thereby decreasing the osmolality of the internal environment, causing a suppression of secretion of ADH, thus giving the clinical feature is polyuria, occurs in patients with psychiatric, anxious or diseases drugs such as phenothiazines [1,5,6]. (crimsonpublishers.com)
Symptoms and signs include polyuria and those related to dehydration and hypernatremia. (msdmanuals.com)
Pituitary1
Thus growth hormone is a diabetogenic hormone producing pituitary diabetes (due to overproduction of glucose and decreased utilization). (howmed.net)
Disorders1
Insulin-dependent diabetes mellitus (type 1 diabetes/T1D or IDDM), type 2 diabetes (T2D or NIDDM), cardiovascular disorders, multiple sclerosis (MS), rheumatoid arthritis (RA), cancer, autism, and schizophrenia are examples. (dorak.info)
Syndrome1
Extraepithelial extraglandular involvement in Sjögren syndrome is related to B-cell hyperreactivity, hypergammaglobulinemia, and immune complex formation and includes palpable purpura, glomerulonephritis, and peripheral neuropathy. (medscape.com)
Chlorpropamide1
Other useful medications include chlorpropamide and thiazide diuretics. (medscape.com)
Promotes1
Furthermore, miR-543 upregulation promotes the expression of genes related to drug metabolism, including CYP3A4, which is involved in ruxolitinib metabolism. (jci.org)
Central1
DI has 2 major forms: central and nephrogenic. (medscape.com)
Cells1
The cell membranes of a variety of different bacteria, fungi, animal and plant cells contain aquaporins through which water can flow more rapidly into and out of the cell than by diffusing through the phospholipid bilayer. (wikipedia.org)
Cancer1
Cancer Epidemiology Biomarkers & Prevention 16 (6): 1121-1127. (mdc-berlin.de)
Symptoms1
Common medications that can cause sicca symptoms in any age group include antidepressants, anticholinergics, beta blockers, diuretics, and antihistamines. (medscape.com)
Liver1
Periepithelial infiltrative processes include interstitial nephritis, liver involvement, and bronchiolitis and generally follow a benign course. (medscape.com)
Typical1
Typical injuries include head trauma , tumor, and neurosurgical procedures. (medscape.com)
Type2
Because aquaporins are usually always open and are prevalent in just about every cell type, this leads to a misconception that water readily passes through the cell membrane down its concentration gradient. (wikipedia.org)
Dominant negative mutations (where mutation on one copy renders the other copy inactive) are involved in osteogenesis imperfecta type I and autosomal dominant nephrogenic diabetes insidipus . (dorak.info)
Cases1
A retrospective review of an academic center database of the period 1996 to 2011 determined that, of 139 genetically confirmed FSHD cases, 7 had atypical disease, including late age of onset of disease, focal weakness and dyspnea (Hassan, 2012). (arkansasbluecross.com)
Condition1
The active ingredient metformin, which is contained in our product Glucophage , is the drug of alternative for first-line therapy of this condition and is recommended by international diabetes associations. (ehd.org)
Production1
diabetes: V Pertaining the application production of the symbol. (augenta.net)