nephrogenic diabetes insipidus

Summary

Summary: A genetic or acquired polyuric disorder characterized by persistent hypotonic urine and HYPOKALEMIA. This condition is due to renal tubular insensitivity to VASOPRESSIN and failure to reduce urine volume. It may be the result of mutations of genes encoding VASOPRESSIN RECEPTORS or AQUAPORIN-2; KIDNEY DISEASES; adverse drug effects; or complications from PREGNANCY.

Top Publications

  1. Oksche A, Dickson J, Schulein R, Seyberth H, Muller M, Rascher W, et al. Two novel mutations in the vasopressin V2 receptor gene in patients with congenital nephrogenic diabetes insipidus. Biochem Biophys Res Commun. 1994;205:552-7 pubmed
    Families with congenital nephrogenic diabetes insipidus were analyzed with regard to mutations in the vasopressin V2 receptor gene. Family 1 shows an X-chromosomal recessive inheritance of the disease over 4 generations...
  2. Kim G, Choi N, Jung J, Song J, Lee C, Kang C, et al. Treating lithium-induced nephrogenic diabetes insipidus with a COX-2 inhibitor improves polyuria via upregulation of AQP2 and NKCC2. Am J Physiol Renal Physiol. 2008;294:F702-9 pubmed publisher
    ..NSAIDs) enhances urinary concentration, and these agents have antidiuretic effects in patients with nephrogenic diabetes insipidus (NDI) of different etiologies...
  3. Robben J, Sze M, Knoers N, Deen P. Functional rescue of vasopressin V2 receptor mutants in MDCK cells by pharmacochaperones: relevance to therapy of nephrogenic diabetes insipidus. Am J Physiol Renal Physiol. 2007;292:F253-60 pubmed
    Intracellular retention of a functional vasopressin V2 receptor (V2R) is a major cause of congenital nephrogenic diabetes insipidus (NDI) and rescue of V2R mutants by nonpeptide antagonists may restore their basolateral membrane (BM) ..
  4. Broides A, Ault B, Arthus M, Bichet D, Conley M. Severe combined immunodeficiency associated with nephrogenic diabetes insipidus and a deletion in the Xq28 region. Clin Immunol. 2006;120:147-55 pubmed
    We evaluated a baby boy with severe combined immunodeficiency (SCID) and X-linked nephrogenic diabetes insipidus (NDI). This patient had less than 10% CD3+ T cells, almost all of which were positive for CD4 and CD45RO...
  5. Bichet D. Nephrogenic diabetes insipidus. Adv Chronic Kidney Dis. 2006;13:96-104 pubmed
    b>Nephrogenic diabetes insipidus (NDI), which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone arginine vasopressin (AVP)...
  6. Ahmad M. Abacavir-induced reversible Fanconi syndrome with nephrogenic diabetes insipidus in a patient with acquired immunodeficiency syndrome. J Postgrad Med. 2006;52:296-7 pubmed
    There are several reports of Fanconi syndrome (FS) with or without nephrogenic diabetes insipidus (NDI) in patients with human immunodeficiency virus (HIV) infection, treated with various antiretroviral medications like cidofovir, ..
  7. Kim G, Lee J, Oh Y, Chang H, Joo K, Na K, et al. Antidiuretic effect of hydrochlorothiazide in lithium-induced nephrogenic diabetes insipidus is associated with upregulation of aquaporin-2, Na-Cl co-transporter, and epithelial sodium channel. J Am Soc Nephrol. 2004;15:2836-43 pubmed
    Thiazides have been used in patients with nephrogenic diabetes insipidus (NDI) to decrease urine volume, but the mechanism by which it produces the paradoxic antidiuretic effect remains unclear...
  8. Ho H, Chung S, Law J, Ko B, Tam S, Brooks H, et al. Aldose reductase-deficient mice develop nephrogenic diabetes insipidus. Mol Cell Biol. 2000;20:5840-6 pubmed
    ..These ALR2-deficient mice exhibited a partially defective urine-concentrating ability, having a phenotype resembling that of nephrogenic diabetes insipidus.
  9. Sohara E, Rai T, Yang S, Uchida K, Nitta K, Horita S, et al. Pathogenesis and treatment of autosomal-dominant nephrogenic diabetes insipidus caused by an aquaporin 2 mutation. Proc Natl Acad Sci U S A. 2006;103:14217-22 pubmed
    Frame-shift mutations within the C terminus of aquaporin 2 (AQP2) cause autosomal-dominant nephrogenic diabetes insipidus (AD-NDI)...
  10. van Lieburg A, Verdijk M, Knoers V, van Essen A, Proesmans W, Mallmann R, et al. Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. Am J Hum Genet. 1994;55:648-52 pubmed
    Mutations in the X-chromosomal V2 receptor gene are known to cause nephrogenic diabetes insipidus (NDI). Besides the X-linked form, an autosomal mode of inheritance has been described...

Detail Information

Publications79

  1. Oksche A, Dickson J, Schulein R, Seyberth H, Muller M, Rascher W, et al. Two novel mutations in the vasopressin V2 receptor gene in patients with congenital nephrogenic diabetes insipidus. Biochem Biophys Res Commun. 1994;205:552-7 pubmed
    Families with congenital nephrogenic diabetes insipidus were analyzed with regard to mutations in the vasopressin V2 receptor gene. Family 1 shows an X-chromosomal recessive inheritance of the disease over 4 generations...
  2. Kim G, Choi N, Jung J, Song J, Lee C, Kang C, et al. Treating lithium-induced nephrogenic diabetes insipidus with a COX-2 inhibitor improves polyuria via upregulation of AQP2 and NKCC2. Am J Physiol Renal Physiol. 2008;294:F702-9 pubmed publisher
    ..NSAIDs) enhances urinary concentration, and these agents have antidiuretic effects in patients with nephrogenic diabetes insipidus (NDI) of different etiologies...
  3. Robben J, Sze M, Knoers N, Deen P. Functional rescue of vasopressin V2 receptor mutants in MDCK cells by pharmacochaperones: relevance to therapy of nephrogenic diabetes insipidus. Am J Physiol Renal Physiol. 2007;292:F253-60 pubmed
    Intracellular retention of a functional vasopressin V2 receptor (V2R) is a major cause of congenital nephrogenic diabetes insipidus (NDI) and rescue of V2R mutants by nonpeptide antagonists may restore their basolateral membrane (BM) ..
  4. Broides A, Ault B, Arthus M, Bichet D, Conley M. Severe combined immunodeficiency associated with nephrogenic diabetes insipidus and a deletion in the Xq28 region. Clin Immunol. 2006;120:147-55 pubmed
    We evaluated a baby boy with severe combined immunodeficiency (SCID) and X-linked nephrogenic diabetes insipidus (NDI). This patient had less than 10% CD3+ T cells, almost all of which were positive for CD4 and CD45RO...
  5. Bichet D. Nephrogenic diabetes insipidus. Adv Chronic Kidney Dis. 2006;13:96-104 pubmed
    b>Nephrogenic diabetes insipidus (NDI), which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone arginine vasopressin (AVP)...
  6. Ahmad M. Abacavir-induced reversible Fanconi syndrome with nephrogenic diabetes insipidus in a patient with acquired immunodeficiency syndrome. J Postgrad Med. 2006;52:296-7 pubmed
    There are several reports of Fanconi syndrome (FS) with or without nephrogenic diabetes insipidus (NDI) in patients with human immunodeficiency virus (HIV) infection, treated with various antiretroviral medications like cidofovir, ..
  7. Kim G, Lee J, Oh Y, Chang H, Joo K, Na K, et al. Antidiuretic effect of hydrochlorothiazide in lithium-induced nephrogenic diabetes insipidus is associated with upregulation of aquaporin-2, Na-Cl co-transporter, and epithelial sodium channel. J Am Soc Nephrol. 2004;15:2836-43 pubmed
    Thiazides have been used in patients with nephrogenic diabetes insipidus (NDI) to decrease urine volume, but the mechanism by which it produces the paradoxic antidiuretic effect remains unclear...
  8. Ho H, Chung S, Law J, Ko B, Tam S, Brooks H, et al. Aldose reductase-deficient mice develop nephrogenic diabetes insipidus. Mol Cell Biol. 2000;20:5840-6 pubmed
    ..These ALR2-deficient mice exhibited a partially defective urine-concentrating ability, having a phenotype resembling that of nephrogenic diabetes insipidus.
  9. Sohara E, Rai T, Yang S, Uchida K, Nitta K, Horita S, et al. Pathogenesis and treatment of autosomal-dominant nephrogenic diabetes insipidus caused by an aquaporin 2 mutation. Proc Natl Acad Sci U S A. 2006;103:14217-22 pubmed
    Frame-shift mutations within the C terminus of aquaporin 2 (AQP2) cause autosomal-dominant nephrogenic diabetes insipidus (AD-NDI)...
  10. van Lieburg A, Verdijk M, Knoers V, van Essen A, Proesmans W, Mallmann R, et al. Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. Am J Hum Genet. 1994;55:648-52 pubmed
    Mutations in the X-chromosomal V2 receptor gene are known to cause nephrogenic diabetes insipidus (NDI). Besides the X-linked form, an autosomal mode of inheritance has been described...
  11. Knoers N, Deen P. Molecular and cellular defects in nephrogenic diabetes insipidus. Pediatr Nephrol. 2001;16:1146-52 pubmed
    The identification of the different molecular causes of congenital nephrogenic diabetes insipidus (NDI), a disorder characterized by renal insensitivity to the antidiuretic effect of arginine vasopressin, has been of indispensable ..
  12. Yang B, Ma T, Xu Z, Verkman A. cDNA and genomic cloning of mouse aquaporin-2: functional analysis of an orthologous mutant causing nephrogenic diabetes insipidus. Genomics. 1999;57:79-83 pubmed
    As the first step in generating a transgenic mouse model of nephrogenic diabetes insipidus (NDI), we have analyzed the mouse aquaporin-2 (Aqp2) cDNA and gene and generated a mutated Aqp2 orthologous to NDI-causing human AQP2-T126M...
  13. Suga H, Nagasaki H, Kondo T, Okajima Y, Suzuki C, Ozaki N, et al. Novel treatment for lithium-induced nephrogenic diabetes insipidus rat model using the Sendai-virus vector carrying aquaporin 2 gene. Endocrinology. 2008;149:5803-10 pubmed publisher
    Congenital nephrogenic diabetes insipidus (NDI) is a chronic disorder involving polyuria and polydipsia that results from unresponsiveness of the renal collecting ducts to the antidiuretic hormone vasopressin...
  14. Leduc Nadeau A, Lussier Y, Arthus M, Lonergan M, Martinez Aguayo A, Riveira Munoz E, et al. New autosomal recessive mutations in aquaporin-2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes. J Physiol. 2010;588:2205-18 pubmed publisher
    ..Lack of function, often occurring through mistargeting of mutated proteins, induces nephrogenic diabetes insipidus (NDI), a condition characterized by large urinary volumes...
  15. Marr N, Bichet D, Hoefs S, Savelkoul P, Konings I, de Mattia F, et al. Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus. J Am Soc Nephrol. 2002;13:2267-77 pubmed
    ..in the Aquaporin-2 gene, which encodes a renal water channel, have been shown to cause autosomal nephrogenic diabetes insipidus (NDI), a disease in which the kidney is unable to concentrate urine in response to vasopressin...
  16. Schulz A, Sangkuhl K, Lennert T, Wigger M, Price D, Nuuja A, et al. Aminoglycoside pretreatment partially restores the function of truncated V(2) vasopressin receptors found in patients with nephrogenic diabetes insipidus. J Clin Endocrinol Metab. 2002;87:5247-57 pubmed
    By screening patients with X-linked nephrogenic diabetes insipidus (NDI) for mutations within the V(2) vasopressin receptor (AVPR2) gene, we have identified six novel and two recurrent mutations...
  17. Schoneberg T, Pasel K, von Baehr V, Schulz A, Volk H, Gudermann T, et al. Compound deletion of the rhoGAP C1 and V2 vasopressin receptor genes in a patient with nephrogenic diabetes insipidus. Hum Mutat. 1999;14:163-74 pubmed
    ..Characterization of the molecular defect causing X-linked nephrogenic diabetes insipidus (NDI) in a patient revealed a submicroscopic deletion of a 21...
  18. Canfield M, Tamarappoo B, Moses A, Verkman A, Holtzman E. Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response. Hum Mol Genet. 1997;6:1865-71 pubmed
    Congenital nephrogenic diabetes insipidus (NDI) is a rare disease caused most often by mutations in the vasopressin V2 receptor (AVPR2). We studied a family which included a female patient with NDI with symptoms dating from infancy...
  19. Kamsteeg E, Bichet D, Konings I, Nivet H, Lonergan M, Arthus M, et al. Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus. J Cell Biol. 2003;163:1099-109 pubmed
    ..Mutations in AQP2 cause autosomal nephrogenic diabetes insipidus (NDI), a disease characterized by the inability to concentrate urine...
  20. Jeong H, Jeon U, Koo B, Kim W, Im S, Shin J, et al. Inactivation of Notch signaling in the renal collecting duct causes nephrogenic diabetes insipidus in mice. J Clin Invest. 2009;119:3290-300 pubmed publisher
    ..progressive hydronephrosis, sodium wasting, and a severe urinary concentrating defect manifested as nephrogenic diabetes insipidus. Histological analysis revealed a diminished number of principal cells and corresponding increase in ..
  21. Schoneberg T, Schulz A, Biebermann H, Gruters A, Grimm T, Hübschmann K, et al. V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms. Hum Mutat. 1998;12:196-205 pubmed
    ..in the V2 vasopressin receptor (AVPR2) gene have been identified as a molecular basis for X-linked nephrogenic diabetes insipidus (NDI)...
  22. Marr N, Bichet D, Lonergan M, Arthus M, Jeck N, Seyberth H, et al. Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus. Hum Mol Genet. 2002;11:779-89 pubmed
    Autosomal nephrogenic diabetes insipidus (NDI), a disease in which the kidney is unable to concentrate urine in response to vasopressin, is caused by mutations in the Aquaporin-2 (AQP2) gene...
  23. Asai T, Kuwahara M, Kurihara H, Sakai T, Terada Y, Marumo F, et al. Pathogenesis of nephrogenic diabetes insipidus by aquaporin-2 C-terminus mutations. Kidney Int. 2003;64:2-10 pubmed
    We previously reported three aquaporin-2 (AQP2) gene mutations known to cause autosomal-dominant nephrogenic diabetes insipidus (NDI) (Am J Hum Genet 69:738, 2001)...
  24. Ulinski T, Grapin C, Forin V, Vargas Poussou R, Deschenes G, Bensman A. Severe bladder dysfunction in a family with ADH receptor gene mutation responsible for X-linked nephrogenic diabetes insipidus. Nephrol Dial Transplant. 2004;19:2928-9 pubmed
  25. Pasel K, Schulz A, Timmermann K, Linnemann K, Hoeltzenbein M, Jaaskelainen J, et al. Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families. J Clin Endocrinol Metab. 2000;85:1703-10 pubmed
    X-Linked nephrogenic diabetes insipidus (NDI) is a rare inherited disorder characterized by the excretion of abnormal large volumes of diluted urine mainly caused by mutations in the V2 vasopressin receptor (AVPR2) gene...
  26. Iolascon A, Aglio V, Tamma G, D Apolito M, Addabbo F, Procino G, et al. Characterization of two novel missense mutations in the AQP2 gene causing nephrogenic diabetes insipidus. Nephron Physiol. 2007;105:p33-41 pubmed
    Here, we report the aquaporin 2 (AQP2) mutational analysis of a patient with nephrogenic diabetes insipidus heterozygote due to two novel missense mutations...
  27. D Ythurbide G, Goujard C, Méchaï F, Blanc A, Charpentier B, Snanoudj R. Fanconi syndrome and nephrogenic diabetes insipidus associated with didanosine therapy in HIV infection: a case report and literature review. Nephrol Dial Transplant. 2007;22:3656-9 pubmed
  28. Robben J, Knoers N, Deen P. Characterization of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus in a polarized cell model. Am J Physiol Renal Physiol. 2005;289:F265-72 pubmed
    X-linked nephrogenic diabetes insipidus (NDI) is caused by mutations in the gene encoding the vasopressin V2 receptor (V2R). For the development of a tailored therapy for NDI, knowledge of the cellular fate of V2R mutants is needed...
  29. Rollot F, Nazal E, Chauvelot Moachon L, Kelaidi C, Daniel N, Saba M, et al. Tenofovir-related Fanconi syndrome with nephrogenic diabetes insipidus in a patient with acquired immunodeficiency syndrome: the role of lopinavir-ritonavir-didanosine. Clin Infect Dis. 2003;37:e174-6 pubmed
    ..Until there is a better understanding of these interactions, close monitoring is recommended for patients receiving tenofovir, PIs, and didanosine...
  30. Rochdi M, Vargas G, Carpentier E, Oligny Longpré G, Chen S, Kovoor A, et al. Functional characterization of vasopressin type 2 receptor substitutions (R137H/C/L) leading to nephrogenic diabetes insipidus and nephrogenic syndrome of inappropriate antidiuresis: implications for treatments. Mol Pharmacol. 2010;77:836-45 pubmed publisher
    ..Substitution of arginine-137 of the vasopressin type 2 receptor (V2R) for histidine (R137H-V2R) leads to nephrogenic diabetes insipidus (NDI), whereas substitution of the same residue to cysteine or leucine (R137C/L-V2R) causes the ..
  31. Miura K, Sekine T, Iida A, Takahashi K, Igarashi T. Salt-losing nephrogenic diabetes insipidus caused by fetal exposure to angiotensin receptor blocker. Pediatr Nephrol. 2009;24:1235-8 pubmed publisher
    ..glomerular filtration rate, (2) no significant proximal tubular dysfunctions, and (3) salt-losing nephrogenic diabetes insipidus, while the excretion of arginine vasopressin and urine level of cyclic AMP were increased...
  32. Karras A, Lafaurie M, Furco A, Bourgarit A, Droz D, Sereni D, et al. Tenofovir-related nephrotoxicity in human immunodeficiency virus-infected patients: three cases of renal failure, Fanconi syndrome, and nephrogenic diabetes insipidus. Clin Infect Dis. 2003;36:1070-3 pubmed
    ..Renal failure, proximal tubular dysfunction, and nephrogenic diabetes insipidus were observed, and, in 2 cases, renal biopsy revealed severe tubular necrosis with characteristic ..
  33. Birnbaumer M, Gilbert S, Rosenthal W. An extracellular congenital nephrogenic diabetes insipidus mutation of the vasopressin receptor reduces cell surface expression, affinity for ligand, and coupling to the Gs/adenylyl cyclase system. Mol Endocrinol. 1994;8:886-94 pubmed
    The mutation of the type-2 vasopressin receptor (V2R) apparently responsible for X-linked congenital nephrogenic diabetes insipidus (CNDI) in the Q3 family consists of a T to C transition in codon 113, causing the change of Arg-113 to Trp...
  34. Yang B, Zhao D, Verkman A. Hsp90 inhibitor partially corrects nephrogenic diabetes insipidus in a conditional knock-in mouse model of aquaporin-2 mutation. FASEB J. 2009;23:503-12 pubmed publisher
    ..in aquaporin-2 (AQP2) that interfere with its cellular processing can produce autosomal recessive nephrogenic diabetes insipidus (NDI)...
  35. Demura M, Takeda Y, Yoneda T, Furukawa K, Usukura M, Itoh Y, et al. Two novel types of contiguous gene deletion of the AVPR2 and ARHGAP4 genes in unrelated Japanese kindreds with nephrogenic diabetes insipidus. Hum Mutat. 2002;19:23-9 pubmed
    Study of two families containing individuals with nephrogenic diabetes insipidus (NDI) indicated different types of 21.3 kb and 26.3 kb deletions involving the AVPR2 and ARHGAP4 (RhoGAP C1) genes. In the case of the 21...
  36. van Lieburg A, Knoers N, Monnens L. Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus. J Am Soc Nephrol. 1999;10:1958-64 pubmed
    Congenital nephrogenic diabetes insipidus is characterized by insensitivity of the distal nephron to arginine vasopressin. Clinical knowledge of this disease is based largely on case reports...
  37. Matsumura Y, Uchida S, Kondo Y, Miyazaki H, Ko S, Hayama A, et al. Overt nephrogenic diabetes insipidus in mice lacking the CLC-K1 chloride channel. Nat Genet. 1999;21:95-8 pubmed
    ..Clcnk1+/- and Clcnk1+/+ mice, whereas only a minimal increase was seen in Clcnk1-/- mice, indicating nephrogenic diabetes insipidus. After in vitro perfusion of the tAL, the lumen-to-bath chloride gradient did not produce a diffusion ..
  38. Levin M, Haggie P, Vetrivel L, Verkman A. Diffusion in the endoplasmic reticulum of an aquaporin-2 mutant causing human nephrogenic diabetes insipidus. J Biol Chem. 2001;276:21331-6 pubmed
    Mutations in the aquaporin-2 (AQP2) water channel cause the hereditary renal disease nephrogenic diabetes insipidus (NDI)...
  39. Mulders S, Bichet D, Rijss J, Kamsteeg E, Arthus M, Lonergan M, et al. An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex. J Clin Invest. 1998;102:57-66 pubmed
    Mutations in the aquaporin-2 (AQP2) water channel gene cause autosomal recessive nephrogenic diabetes insipidus (NDI)...
  40. Fujii T, Ochi J, Miyajima T, Yorifuji T, Ueda T, Koyama T, et al. Nephrogenic diabetes insipidus and tethered cord syndrome with a lipoma of the cauda equina. Brain Dev. 1998;20:47-9 pubmed
    ..She was diagnosed as having nephrogenic diabetes insipidus. This unusual complication of the tethered cord syndrome was most likely due to a hydronephrosis ..
  41. Boone M, Kortenoeven M, Robben J, Deen P. Effect of the cGMP pathway on AQP2 expression and translocation: potential implications for nephrogenic diabetes insipidus. Nephrol Dial Transplant. 2010;25:48-54 pubmed publisher
    ..Consequently, concentration of urine is initiated. X-linked nephrogenic diabetes insipidus (NDI), characterized by the inability to concentrate urine in response to AVP, is caused by mutations ..
  42. Jin X, Chen Z, Cai S, Chen S. Nephrogenic diabetes insipidus with dilatation of bilateral renal pelvis, ureter and bladder. Scand J Urol Nephrol. 2009;43:73-5 pubmed publisher
    b>Nephrogenic diabetes insipidus (NDI) with dilatation of upper urinary tract and bladder is rarely reported. This study evaluated the urological manifestations and treatment results of this rare condition.
  43. Im E, Lee J, Kim J, Chang S, Moon S, Ahn Y, et al. Hypokalemic periodic paralysis associated with thyrotoxicosis, renal tubular acidosis and nephrogenic diabetes insipidus. Endocr J. 2010;57:347-50 pubmed
    ..The polyuria and polydipsia were caused by nephrogenic diabetes insipidus, which was diagnosed using the water deprivation test and vasopressin administration...
  44. Mulders S, Knoers N, van Lieburg A, Monnens L, Leumann E, Wühl E, et al. New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels. J Am Soc Nephrol. 1997;8:242-8 pubmed
    b>Nephrogenic diabetes insipidus (NDI) is characterized by the inability of the kidney to concentrate urine in response to vasopressin...
  45. Morello J, Bichet D. Nephrogenic diabetes insipidus. Annu Rev Physiol. 2001;63:607-30 pubmed
    b>Nephrogenic diabetes insipidus, which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone arginine vasopressin...
  46. Yang B, Gillespie A, Carlson E, Epstein C, Verkman A. Neonatal mortality in an aquaporin-2 knock-in mouse model of recessive nephrogenic diabetes insipidus. J Biol Chem. 2001;276:2775-9 pubmed
    Hereditary non-X-linked nephrogenic diabetes insipidus (NDI) is caused by mutations in the aquaporin-2 (AQP2) water channel...
  47. de Mattia F, Savelkoul P, Kamsteeg E, Konings I, van der Sluijs P, Mallmann R, et al. Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus. J Am Soc Nephrol. 2005;16:2872-80 pubmed
    ..Mutations in the AQP2 gene cause recessive and dominant nephrogenic diabetes insipidus (NDI), a disease in which the kidney is unable to concentrate urine in response to vasopressin...
  48. Morello J, Salahpour A, Laperriere A, Bernier V, Arthus M, Lonergan M, et al. Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants. J Clin Invest. 2000;105:887-95 pubmed
    ..150 mutations within the coding sequence of the V2 vasopressin receptor (V2R) gene are known to cause nephrogenic diabetes insipidus (NDI)...
  49. Lejarraga H, Caletti M, Caino S, Jiménez A. Long-term growth of children with nephrogenic diabetes insipidus. Pediatr Nephrol. 2008;23:2007-12 pubmed publisher
    Primary nephrogenic diabetes insipidus (NDI) is a genetic, chronic disease characterised by lack of distal renal tubule to antidiuretic hormone...
  50. Loonen A, Knoers N, Van Os C, Deen P. Aquaporin 2 mutations in nephrogenic diabetes insipidus. Semin Nephrol. 2008;28:252-65 pubmed publisher
    ..of body water homeostasis became clear when it was shown that mutations in their genes cause nephrogenic diabetes insipidus, a disorder in which the kidney is unable to concentrate urine in response to AVP...
  51. Tegay D, Lane A, Roohi J, Hatchwell E. Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus. Am J Med Genet A. 2007;143A:594-8 pubmed
    ..a consequence of resultant hypothalamic dysfunction from hydrocephalus and must be distinguished from nephrogenic diabetes insipidus (NDI) by exogenous vasopressin response...
  52. Sahakitrungruang T, Tee M, Rattanachartnarong N, Shotelersuk V, Suphapeetiporn K, Miller W. Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families. Horm Res Paediatr. 2010;73:349-54 pubmed publisher
    AVPR2 mutations cause most cases of nephrogenic diabetes insipidus (NDI); 211 AVPR2 mutations have been described, but only 7 are described causing partial NDI.
  53. Oksche A, Moller A, Dickson J, Rosendahl W, Rascher W, Bichet D, et al. Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus. Hum Genet. 1996;98:587-9 pubmed
    ..vasopressin V2 receptor (V2R) and the aquaporin-2 genes of two unrelated male patients with congenital nephrogenic diabetes insipidus were analyzed. The V2R gene of the patient of family 1 had the wild-type sequence...
  54. Kuwahara M, Iwai K, Ooeda T, Igarashi T, Ogawa E, Katsushima Y, et al. Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus. Am J Hum Genet. 2001;69:738-48 pubmed
    ..each in a single allele of exon 4 of the AQP2 gene, in three families showing autosomal dominant nephrogenic diabetes insipidus (NDI)...
  55. Kamsteeg E, Deen P. Detection of aquaporin-2 in the plasma membranes of oocytes: a novel isolation method with improved yield and purity. Biochem Biophys Res Commun. 2001;282:683-90 pubmed
    Aquaporin-2 (AQP2) water channel mutations cause autosomal recessive and dominant nephrogenic diabetes insipidus (NDI)...
  56. Li Y, Shaw S, Kamsteeg E, Vandewalle A, Deen P. Development of lithium-induced nephrogenic diabetes insipidus is dissociated from adenylyl cyclase activity. J Am Soc Nephrol. 2006;17:1063-72 pubmed
    ..Lithium treatment often causes nephrogenic diabetes insipidus (NDI), which coincides with decreased AQP2 expression and which generally is ascribed to reduced ..
  57. Hirano K, Zuber C, Roth J, Ziak M. The proteasome is involved in the degradation of different aquaporin-2 mutants causing nephrogenic diabetes insipidus. Am J Pathol. 2003;163:111-20 pubmed
    Mutations in the water channel aquaporin-2 (AQP2) can cause congenital nephrogenic diabetes insipidus. To reveal the possible involvement of the protein quality control system in processing AQP2 mutants, we created an in vitro system of ..
  58. Morishita T, Tsutsui M, Shimokawa H, Sabanai K, Tasaki H, Suda O, et al. Nephrogenic diabetes insipidus in mice lacking all nitric oxide synthase isoforms. Proc Natl Acad Sci U S A. 2005;102:10616-21 pubmed
    ..to an antidiuretic hormone, vasopressin, all of which are characteristics consistent with nephrogenic diabetes insipidus. In the kidney of the triply NOS-/- mice, vasopressin-induced cAMP production and membranous aquaporin-..
  59. Boccalandro C, de Mattia F, Guo D, Xue L, Orlander P, King T, et al. Characterization of an aquaporin-2 water channel gene mutation causing partial nephrogenic diabetes insipidus in a Mexican family: evidence of increased frequency of the mutation in the town of origin. J Am Soc Nephrol. 2004;15:1223-31 pubmed
    A Mexican family with partial congenital nephrogenic diabetes insipidus (NDI) that resulted from a mutation in the aquaporin-2 water channel (AQP2) was characterized, and the source of this rare mutation was traced to the family's town of ..
  60. Miyakoshi M, Kamoi K, Uchida S, Sasaki S. A case of a novel mutant vasopressin receptor-dependent nephrogenic diabetes insipidus with bilateral non-obstructive hydronephrosis in a middle aged man: differentiation from aquaporin-dependent nephrogenic diabetes insipidus by response of factor V. Endocr J. 2003;50:809-14 pubmed
    We describe a case of a novel mutant vasopressin 2 receptor (V2R)-dependent nephrogenic diabetes insipidus (NDI) with bilateral non-obstructive hydronephrosis in a middle aged man...
  61. Robben J, Knoers N, Deen P. Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus. Am J Physiol Renal Physiol. 2006;291:F257-70 pubmed
    ..The disorder nephrogenic diabetes insipidus (NDI) is characterized by the kidney's inability to concentrate pro-urine in response to AVP, which is ..
  62. Sasaki S. Nephrogenic diabetes insipidus: update of genetic and clinical aspects. Nephrol Dial Transplant. 2004;19:1351-3 pubmed
  63. Los E, Deen P, Robben J. Potential of nonpeptide (ant)agonists to rescue vasopressin V2 receptor mutants for the treatment of X-linked nephrogenic diabetes insipidus. J Neuroendocrinol. 2010;22:393-9 pubmed publisher
    ..Mutations in the gene encoding the V2R often lead to the X-linked inheritable form of nephrogenic diabetes insipidus (NDI), a disorder in which patients are unable to concentrate their urine despite the presence of AVP...
  64. Davenport C, Liew A, Vic Lau P, Smith D, Thompson C, Kearns G, et al. Central pontine myelinolysis secondary to hypokalaemic nephrogenic diabetes insipidus. Ann Clin Biochem. 2010;47:86-9 pubmed publisher
    ..We describe a case of CPM occurring secondary to nephrogenic diabetes insipidus (DI), which developed as a consequence of severe hypokalaemia...
  65. Vargas Poussou R, Forestier L, Dautzenberg M, Niaudet P, Dechaux M, Antignac C. Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus. J Am Soc Nephrol. 1997;8:1855-62 pubmed
    Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by renal tubular insensitivity to the antidiuretic effect of arginine vasopressin (AVP)...
  66. Guyon C, Lussier Y, Bissonnette P, Leduc Nadeau A, Lonergan M, Arthus M, et al. Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype. Am J Physiol Renal Physiol. 2009;297:F489-98 pubmed publisher
    ..Alterations in AQP2 function induce nephrogenic diabetes insipidus (NDI), a condition characterized by severe polyuria and polydipsia...
  67. Kuwahara M. Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus. Intern Med. 1998;37:215-7 pubmed
    Two cases of autosomal recessive nephrogenic diabetes insipidus (NDI) were evaluated. Both cases were found to be compound heterozygote for missense mutations in the aquaporin-2 (AQP2) gene...
  68. Behr R, Brestelli J, Fulmer J, Miyawaki N, Kleyman T, Kaestner K. Mild nephrogenic diabetes insipidus caused by Foxa1 deficiency. J Biol Chem. 2004;279:41936-41 pubmed
    ..Mutations of the human genes encoding the vasopressin 2 receptor and aquaporin 2 cause nephrogenic diabetes insipidus; however, expression of these genes is maintained or increased, respectively, in Foxa1(-/-) mice...
  69. Garofeanu C, Weir M, Rosas Arellano M, Henson G, Garg A, Clark W. Causes of reversible nephrogenic diabetes insipidus: a systematic review. Am J Kidney Dis. 2005;45:626-37 pubmed
    In nephrogenic diabetes insipidus (NDI), the kidney is unable to produce concentrated urine because of the insensitivity of the distal nephron to antidiuretic hormone (arginine vasopressin)...
  70. Sands J, Bichet D. Nephrogenic diabetes insipidus. Ann Intern Med. 2006;144:186-94 pubmed
  71. Spanakis E, Milord E, Gragnoli C. AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance. J Cell Physiol. 2008;217:605-17 pubmed publisher
    Almost 90% of nephrogenic diabetes insipidus (NDI) is due to mutations in the arginine-vasopressin receptor 2 gene (AVPR2). We retrospectively examined all the published mutations/variants in AVPR2...
  72. Ranadive S, Ersoy B, Favre H, CHEUNG C, Rosenthal S, Miller W, et al. Identification, characterization and rescue of a novel vasopressin-2 receptor mutation causing nephrogenic diabetes insipidus. Clin Endocrinol (Oxf). 2009;71:388-93 pubmed publisher
    X-linked nephrogenic diabetes insipidus (XNDI), caused by mutations in the V2 vasopressin receptor (V2R), is clinically distinguished from central diabetes insipidus (CDI) by elevated serum vasopressin (AVP) levels and unresponsiveness to ..
  73. Kortenoeven M, Li Y, Shaw S, Gaeggeler H, Rossier B, Wetzels J, et al. Amiloride blocks lithium entry through the sodium channel thereby attenuating the resultant nephrogenic diabetes insipidus. Kidney Int. 2009;76:44-53 pubmed publisher
    Lithium therapy frequently induces nephrogenic diabetes insipidus; amiloride appears to prevent its occurrence in some clinical cases...
  74. Marr N, Kamsteeg E, van Raak M, Van Os C, Deen P. Functionality of aquaporin-2 missense mutants in recessive nephrogenic diabetes insipidus. Pflugers Arch. 2001;442:73-7 pubmed
    Aquaporin-2 (AQP2) missense mutants in recessive nephrogenic diabetes insipidus (NDI) are all retained in the endoplasmic reticulum (ER), but some could function as water channels...
  75. Li J, Chou C, Li B, Gavrilova O, Eisner C, Schnermann J, et al. A selective EP4 PGE2 receptor agonist alleviates disease in a new mouse model of X-linked nephrogenic diabetes insipidus. J Clin Invest. 2009;119:3115-26 pubmed publisher
    X-linked nephrogenic diabetes insipidus (XNDI) is a severe kidney disease caused by inactivating mutations in the V2 vasopressin receptor (V2R) gene that result in the loss of renal urine-concentrating ability...
  76. Wildin R, Cogdell D, Valadez V. AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus. Kidney Int. 1998;54:1909-22 pubmed
    ..Disruption of AVPR2 causes X-linked congenital nephrogenic diabetes insipidus (NDI), yet the functional significance of most gene sequence variations found in association with NDI ..
  77. Morello J, Salahpour A, Petaja Repo U, Laperriere A, Lonergan M, Arthus M, et al. Association of calnexin with wild type and mutant AVPR2 that causes nephrogenic diabetes insipidus. Biochemistry. 2001;40:6766-75 pubmed
    Over 155 mutations within the V2 vasopressin receptor (AVPR2) gene are responsible for nephrogenic diabetes insipidus (NDI). The expression and subcellular distribution of four of these was investigated in transfected cells...
  78. Gooch J, Guler R, Barnes J, Toro J. Loss of calcineurin Aalpha results in altered trafficking of AQP2 and in nephrogenic diabetes insipidus. J Cell Sci. 2006;119:2468-76 pubmed
    ..These experiments demonstrate that, CnAalpha is required for normal intracellular trafficking of AQP2 and loss of calcineurin protein or activity disrupts AQP2 function...
  79. Birnbaumer M. Vasopressin receptor mutations and nephrogenic diabetes insipidus. Arch Med Res. 1999;30:465-74 pubmed
    X-linked recessive nephrogenic diabetes insipidus is caused by mutations in the gene encoding the V2 vasopressin receptor (V2R), the mediator of the antidiuretic effect of arginine vasopressin (AVP) in mammalian kidneys...