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Diabetes Insipidus, NephrogenicAquaporin 2Diabetes InsipidusAquaporin 6AquaporinsNephrogenic Fibrosing DermopathyAquaporin 1Receptors, VasopressinAquaporin 3Aquaporin 5PolyuriaAquaporin 4Deamino Arginine VasopressinRenal AgentsFanconi SyndromeKidney Concentrating AbilityKidney Tubules, CollectingDiabetes Mellitus, Type 1Arginine VasopressinDiabetes MellitusLithium CarbonateVasopressinsLithiumWater DeprivationDiabetes Mellitus, Type 2Renal AminoaciduriasWaterGadoliniumAntidiuretic AgentsAcidosis, Renal TubularKidneyHydronephrosisLithium CompoundsWater-Electrolyte BalanceInappropriate ADH SyndromePseudopseudohypoparathyroidismDiabetes ComplicationsPedigreeRats, BrattleboroOsmolar ConcentrationDiuresisX ChromosomeMutationUrineDiabetes Mellitus, ExperimentalKidney MedullaKidney DiseasesGenes, RecessiveFrameshift MutationMolecular Sequence DataPoint MutationMutation, MissenseIon ChannelsOocytesSkin DiseasesCyclic AMPAmino Acid SequenceProtein TransportDiabetes, GestationalDNA Mutational AnalysisCell MembraneContrast MediaBlood GlucoseWilms TumorGadolinium DTPABase SequenceHemoglobin A, GlycosylatedDisease Models, AnimalHypoglycemic AgentsSequence DeletionPAX2 Transcription FactorRenal InsufficiencyHeterozygoteNephrons
InsipidusAutosomal dominantVasopressin2022UrineRenalKidneysPituitaryPatientsKidneyJournalCentralCellsTypeConditionCongenital nephrogenic diabetesAQP2Autosomal recessiveMutations causeInsipidus causedCharacterization2002AVPR2RecessiveVasopressin receptorCollecting ductExcretionC57BLMissenseArginine vasopressinDeen PMPermeabilityEndocrinologyCell membranePhosphorylationDominantPoreGestationalPlasma membranePartialNeurohypophysealSignaling pathwayCrucial roleMetabolismLithiumForms
Insipidus27
  • Mutations in this channel are associated with nephrogenic diabetes insipidus, which can be autosomal dominant or recessive. (wikipedia.org)
  • Lithium, which is often used to treat bipolar disorder, can cause acquired diabetes insipidus (characterized by the excretion of large volumes of dilute urine) by decreasing the expression of the AQP2 gene. (wikipedia.org)
  • Nephrogenic diabetes insipidus" (PDF). (wikipedia.org)
  • Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus" (PDF). (wikipedia.org)
  • The most common complication of long-term lithium therapy is nephrogenic diabetes insipidus. (medscape.com)
  • The most common complication of chronic lithium therapy is nephrogenic diabetes insipidus. (medscape.com)
  • Wildin RS, Antush MJ, Bennett RL, Schoof JM, Scott CR: Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus. (hmdb.ca)
  • 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)
  • Intracranial calcifications and nephrogenic diabetes insipidus. (docksci.com)
  • on mental retardation, nephrogenic diabetes insipidus and intracerebral calcifications [5]. (docksci.com)
  • 5] there are no elements to exclude the diagnosis of "classic" nephrogenic diabetes insipidus. (docksci.com)
  • In our patient the demonstration of a partial defect in the m o t h e r is in accordance with the diagnosis of X-linked nephrogenic diabetes insipidus. (docksci.com)
  • on the possibility of a new familial disease in the patients reported in his paper, but rather we think the localization of nephrogenic diabetes insipidus on the X chromosome may be another clue to explain the association of nephrogenic diabetes insipidus and mental retardation in some patients. (docksci.com)
  • Kambouzis M, Dlouhy SR, Trofatter JA, Conneally PM, Hooles ME (1988) Localization of the gene for X-linked nephrogenic diabetes insipidus to Xq28. (docksci.com)
  • Miura J, Tachi N, Okabe M (1983) Two cases of nephrogenic diabetes insipidus associated with intracranic calcification. (docksci.com)
  • Reeves WB, Andreoli TE (1989) Nephrogenic diabetes insipidus. (docksci.com)
  • Sir: We agree that classic nephrogenic diabetes insipidus cannot be ruled out in our patients [3]. (docksci.com)
  • We also agree that intracerebral calcifications might be a consequence of severe dehydration during the course of nephrogenic diabetes insipidus, especially in infancy [4]. (docksci.com)
  • Our second and stronger argument was the concurrence of several dysmorphic signs present in both affected boys, which are unusual for nephrogenic diabetes insipidus and which partly resembled those described for Cockayne syndrome. (docksci.com)
  • Kambouris M, Dlouhy SR, Trofatter JA, Conneally PM, Hodes ME (1988) Localization of the gene for X-linked nephrogenic diabetes insipidus to Xq28. (docksci.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)
  • Either type of diabetes insipidus may be complete or partial. (msdmanuals.com)
  • The placenta can secrete vasopressinase during the 2nd half of pregnancy (a syndrome called gestational diabetes insipidus). (msdmanuals.com)
Autosomal dominant2
  • 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)
  • 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)
Vasopressin7
  • It is the only aquaporin regulated by vasopressin. (wikipedia.org)
  • When it is needed, vasopressin binds to the cell surface vasopressin receptor thereby activating a signaling pathway that causes the aquaporin 2 containing vesicles to fuse with the plasma membrane, so the aquaporin 2 can be used by the cell. (wikipedia.org)
  • This aquaporin is regulated in two ways by the peptide hormone vasopressin: short-term regulation (minutes) through trafficking of AQP2 vesicles to the apical region where they fuse with the apical plasma membrane long-term regulation (days) through an increase in AQP2 gene expression. (wikipedia.org)
  • Fasting reduces expression of this aquaporin independently of vasopressin. (wikipedia.org)
  • 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)
  • 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)
  • 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)
20222
Urine2
Renal1
  • También se discuten las perspectivas futuras con respecto a la evaluación y el diagnóstico temprano de lesión renal en estos pacientes. (revistanefrologia.com)
Kidneys1
  • 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)
Pituitary1
  • Thus growth hormone is a diabetogenic hormone producing pituitary diabetes (due to overproduction of glucose and decreased utilization). (howmed.net)
Patients2
  • 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)
  • Other patients with this condition have been reported [1, 3, 6]. (docksci.com)
Kidney1
  • Aquaporin 2 is in kidney epithelial cells and usually lies dormant in intracellular vesicle membranes. (wikipedia.org)
Journal1
  • Journal of Electrocardiology 40 (6 Suppl): S42-S46. (mdc-berlin.de)
Central1
  • DI has 2 major forms: central and nephrogenic. (medscape.com)
Cells1
  • Aquaporin-2 (AQP-2) is found in the apical cell membranes of the kidney's collecting duct principal cells and in intracellular vesicles located throughout the cell. (wikipedia.org)
Type1
  • 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)
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)
Congenital nephrogenic diabetes5
  • Mutations in the aquaporin-2 gene (AQP2), encoding the vasopressin-regulated water channel of the renal collecting duct, are responsible for the autosomal recessive or dominant forms of congenital nephrogenic diabetes insipidus. (nih.gov)
  • These results provide evidence that the Q57P and G100V mutations in congenital nephrogenic diabetes insipidus are attributable to the misrouting of AQP2. (nih.gov)
  • 8] "Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus. (tcdb.org)
  • 5. [Identification of mutations in the arginine vasopressin receptor 2 gene in congenital nephrogenic diabetes insipidus patients]. (nih.gov)
  • 6. Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families. (nih.gov)
AQP210
  • This aquaporin is regulated in two ways by the peptide hormone vasopressin: short-term regulation (minutes) through trafficking of AQP2 vesicles to the apical region where they fuse with the apical plasma membrane long-term regulation (days) through an increase in AQP2 gene expression. (wikipedia.org)
  • Lithium, which is often used to treat bipolar disorder, can cause acquired diabetes insipidus (characterized by the excretion of large volumes of dilute urine) by decreasing the expression of the AQP2 gene. (wikipedia.org)
  • The AQP2 gene provides instructions for making a protein called aquaporin 2. (medlineplus.gov)
  • At least 40 mutations in the AQP2 gene have been identified in people with nephrogenic diabetes insipidus. (medlineplus.gov)
  • Most of the known AQP2 gene mutations cause the aquaporin 2 protein to be misfolded into an incorrect 3-dimensional shape. (medlineplus.gov)
  • Human aquaporin 2 (AQP2) is a water channel found in the kidney collecting duct, where it plays a key role in concentrating urine. (nih.gov)
  • Mutation or functional deficiency of AQP2 leads to severe nephrogenic diabetes insipidus, and inhibition of various aquaporins leads to many water-related diseases such as, edema, cardiac arrest, and stroke. (tcdb.org)
  • 10] "New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels. (tcdb.org)
  • We identified two novel mutations of the aquaporin-2 (AQP2) gene in a sporadic Japanese patient diagnosed with an autosomal recessive nephrogenic diabetes insipidus (NDI). (bvsalud.org)
  • Correlation between AVPR2 mutations and urinary AQP2 excretion in patients with nephrogenic diabetes insipidus. (cdc.gov)
Autosomal recessive2
  • 20. Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant). (nih.gov)
  • 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)
Mutations cause1
  • Typically, loss-of-function V2R mutations cause nephrogenic diabetes insipidus (NDI), whereas gain-of-function mutations cause nephrogenic syndrome of inappropriate antidiuresis (NSIAD). (uaeu.ac.ae)
Insipidus caused1
Characterization5
  • 9] "Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response. (tcdb.org)
  • 1. Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature. (nih.gov)
  • 8. Functional characterization of novel loss-of-function mutations in the vasopressin type 2 receptor gene causing nephrogenic diabetes insipidus. (nih.gov)
  • 18. Identification, characterization and rescue of a novel vasopressin-2 receptor mutation causing nephrogenic diabetes insipidus. (nih.gov)
  • Molecular Characterization of an Aquaporin-2 Mutation Causing Nephrogenic Diabetes Insipidus. (ucsf.edu)
20022
AVPR25
Recessive1
Vasopressin receptor2
  • When it is needed, vasopressin binds to the cell surface vasopressin receptor thereby activating a signaling pathway that causes the aquaporin 2 containing vesicles to fuse with the plasma membrane, so the aquaporin 2 can be used by the cell. (wikipedia.org)
  • 4. Vasopressin receptor mutations causing nephrogenic diabetes insipidus. (nih.gov)
Collecting duct4
  • Aquaporin-2 (AQP-2) is found in the apical cell membranes of the kidney's collecting duct principal cells and in intracellular vesicles located throughout the cell. (wikipedia.org)
  • This hormone triggers chemical reactions that ultimately insert aquaporin 2 water channels into the membrane of collecting duct cells. (medlineplus.gov)
  • Without signals from ADH, aquaporin 2 water channels are removed from the membrane of collecting duct cells. (medlineplus.gov)
  • If aquaporin 2 water channels are not inserted into the membrane of collecting duct cells, the kidneys are unable to respond to signals from ADH. (medlineplus.gov)
Excretion1
  • A decrease in aquaporin 2 excretion is associated with bed rest induced high calciuria. (uniba.it)
C57BL2
  • After sequence verification targeted ES cells were injected into C57BL/6 blastocysts. (careersfromscience.org)
  • Ghosh S, Sinha JK, Putcha UK, Raghunath M. Severe but not moderate vitamin B12 deficiency impairs lipid profile, induces adiposity, and leads to adverse gestational outcome in female C57BL/6 mice. (thefastleanpro.com)
Missense1
  • The patient 2 had a missense mutation (L623P), that was also identified in Japanese patients, and a novel in-frame 18 base insertion in exon 6 as a heterozygous state. (bvsalud.org)
Arginine vasopressin2
Deen PM3
Permeability1
  • A novel human aquaporin-4 splice variant exhibits a dominant-negative activity: a new mechanism to regulate water permeability. (uniba.it)
Endocrinology1
  • Clinical endocrinology 2008 Dec 69 (6): 926-30. (cdc.gov)
Cell membrane2
Phosphorylation1
  • 7] "The role of putative phosphorylation sites in the targeting and shuttling of the aquaporin-2 water channel. (tcdb.org)
Dominant1
  • 5] "Heteroligomerization of an aquaporin-2 mutant with wild-type aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus. (tcdb.org)
Pore1
  • A ) Aquaporins have six bilayer-spanning domains and two asparagine-proline-alanine boxes that are essential to form a water-transporting pore. (medscape.com)
Gestational1
Plasma membrane2
  • The discovery of aquaporins, which are plasma-membrane-associated water channels, has greatly influenced the medical sciences. (medscape.com)
  • aquaporins form tetramers when on the plasma membrane. (medscape.com)
Partial2
Neurohypophyseal1
Signaling pathway1
Crucial role1
  • Although aquaporins have a proven crucial role in water homeostasis, the physiological and pathological importance of aquaporins as glycerol channels is not fully understood. (medscape.com)
Metabolism1
  • Although the physiological and pathological relevance of aquaporins as glycerol channels is not fully understood, two subtypes-7 and 9 (AQP7 and AQP9)-are highly expressed in adipocytes and the liver, respectively, and seem to play important parts in the homeostasis of metabolism. (medscape.com)
Lithium1
Forms1
  • DI has 2 major forms: central and nephrogenic. (medscape.com)