Molecular pathogenesis of nephrogenic diabetes insipidus

Clinical and Experimental Nephrology

Volumn 7, Issue 1, 2003, Pages 9-17

  Nguyen, Minhtri K ^a   Nielsen, Søren ^b   Kurtz, Ira ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b AARHUS UNIVERSITY   (Denmark)

Author keywords

Aquaporin 2; CAMP; Nephrogenic diabetes insipidus; Vasopressin V2 receptor; Water channel

Indexed keywords

AQUAPORIN 2; VASOPRESSIN; VASOPRESSIN RECEPTOR;

APICAL MEMBRANE; GENE TRANSLOCATION; GENETIC ANALYSIS; HUMAN; HYDRAULIC CONDUCTIVITY; KIDNEY COLLECTING TUBULE; MOLECULAR BIOLOGY; NEPHROGENIC DIABETES INSIPIDUS; OSMOLARITY; PATHOGENESIS; REVIEW; SIGNAL PROCESSING; WATER ABSORPTION;

ANIMALS; AQUAPORIN 2; AQUAPORIN 6; AQUAPORINS; ARGININE VASOPRESSIN; DIABETES INSIPIDUS, NEPHROGENIC; GENE EXPRESSION REGULATION; HUMANS; LINKAGE (GENETICS); MUTATION; RECEPTORS, VASOPRESSIN; SIGNAL TRANSDUCTION; X CHROMOSOME;

EID: 1642501007     PISSN: 13421751     EISSN: None     Source Type: Journal    
DOI: 10.1007/s101570300001     Document Type: Review

References (92)

1. Baylis PH. Osmoregulation and control of vasopressin secretion in healthy humans. Am J Physiol 1987;253:R671-8.
2. Robertson GL. Physiology of ADH secretion. Kidney Int 1987;21:S20-6.
3. Bichet DG. Nephrogenic diabetes insipidus. Am J Med 1998;105:431-42.
4. Fushimi K, Sasaki S, Marumo F. Phosphorylation of serine 256 is required for cAMP-dependent regulatory exocytosis of the aquaporin-2 water channel. J Biol Chem 1997;272:14800-4.
5. Nielsen S, Chou CL, Marples D, Christensen EI, Kishore BK, Knepper MA. Vasopressin increases water permeability of kidney collecting duct by inducing translocation of aquaporin-CD water channels to plasma membrane. Proc Natl Acad Sci USA 1995;92:1013-17.
6. Fushimi K, Uchida S, Hara Y. Cloning and expression of apical membrane water channel of rat kidney collecting tubule. Nature 1993;361:549-52.
7. Harris HW Jr, Strange K, Zeidel M. Current understanding of the cellular biology and molecular structure of antidiuretic hormone-stimulated water transport pathway. J Clin Invest 1991;88:1-8.
8. Katsura T, Gustafson CE, Ausiello DA, Brown D. Protein kinase A phosphorylation is involved in regulated exocytosis of aquaporin-2 in transfected LLC-PK1 cells. Am J Physiol 1997;272:F817-22.
9. Valenti G, Procino G, Carmosino M, Frigeri A, Mannucci R, Nicoletti I, et al. The phosphatase inhibitor okadaic acid induces AQP-2 translocation independently from AQP-2 phosphorylation in renal collecting duct cells. J Cell Sci 2000;113:1985-92.
10. Levine SD, Kachadorian WA, Levin DN, Schlondorff D. Effects of trifluoperazine on function and structure of toad urinary bladder. J Clin Invest 1981;67:662-72.
11. +2 stores and calmodulin. J Biol Chem 2000;275:36839-46.
12. Bouley R, Breton S, Sun T, McLaughlin M, Nsumu NN, Lin HY, et al. Nitric oxide and atrial natriuretic factor stimulate cGMP-dependent membrane insertion of aquaporin 2 in renal epithelial cells. J Clin Invest 2000;106:1115-26.
13. Ishibashi K, Sasaki S, Fushimi K. Molecular cloning and expression of a member of the aquaporin family with permeability to glycerol and urea in addition to water expressed at the basolateral membrane of kidney collecting duct cells. Proc Natl Acad Sci 1994:91:6269-73.
14. Terris J, Ecelbarger CA, Marples DM. Distribution of aquaporin-4 water channel within rat kidney. Am J Physiol 1995;269:F775-85.
15. Marples D, Schroer TA, Ahrens N, Taylor A, Nielsen S. Dynein and dynactin colocalize with AQP-2 water channels in intracellular vesicles from kidney collecting duct. Am J Physiol 1998;274:F384-94.
16. Nielsen S, Marples D, Birn H, Dalby NO, Knepper M. Expression of VAMP-2-like protein in kidney collecting duct intracellular vesicles. J Clin Invest 1995;96:1834-44.
17. Mandon B, Chou CL, Nielsen S, Knepper MA. Syntaxin-4 is localized to the apical plasma membrane of rat renal collecting duct cells: possible role in aquaporin-2 trafficking. J Clin Invest 1996;98:906-13.
18. Ravichandran V, Chawla A, Roche PA. Identification of a novel syntaxin- and synaptobrevin/VAMP-binding protein, SNAP-23, expressed in non-neural tissues. J Biol Chem 1996;271:13300-3.
19. Inoue T, Nielsen S, Mandon B, Terris J, Kishore BK, Knepper MA. SNAP-23 in rat kidney: colocalization with aquaporin-2 in collecting duct vesicles. Am J Physiol 1998;275:F752-60.
20. Simon H, Gao Y, Franki N, Hays RM. Vasopressin depolymerizes apical F-actin in rat inner medullary collecting duct. Am J Physiol 1993;265:C757-62.
21. Nielsen S, Kwon TH, Christensen BM, Promeneur D, Froklaer J, Marples D. Physiology and pathophysiology of renal aquaporins. J Am Soc Nephrol 1999;10:647-63.
22. Matsumura Y, Uchida S, Rai T, Sasaki S, Marumo F. Transcriptional regulation of aquaporin-2 water channel gene by cAMP. J Am Soc Nephrol 1997;8:861-7.
23. Hozawa S, Holtzman EJ, Ausiello DA. cAMP motifs regulating transcription in the aquaporin-2 gene. Am J Physiol 1996;270:C1695-702.
24. Nielsen S, Di Giovanni SR, Christensen EI, Knepper MA, Harris HW. Cellular and subcellular immunolocalization of vasopressinregulated water channel in rat kidney. Proc Natl Acad Sci USA 1993;90:11663-7.
25. Di Giovanni SR, Nielsen S, Christensen EI, Knepper MA. Regulation of collecting duct water channel expression by vasopressin in Brattleboro rat. Proc Natl Acad Sci USA 1994;91:8984-8.
26. Murillo-Carretero MI, Ilundain AA, Echevarria M. Regulation of aquaporin mRNA expression in rat kidney by water intake. J Am Soc Nephrol 1999;10:696-703.
27. Valtin H, Coffey AK, O'Sullivan DJ, Homma S, Dousa TP. Causes of urinary concentrating defect in mice with nephrogenic diabetes insipidus. Physiologia Bohemoslovaca 1990;39:103-11.
28. Echevarria M, Windhager EE, Frindt G. Regulation and selectivity of a rat collecting duct water channel (abstract). J Am Soc Nephrol 1994;5:270.
29. Marples D, Monster B, Frokiaer J, Knepper M, Nielsen S. Thirsting reverses both the diuresis and decreases in aquaporin-2 (AQP2) expression in rat kidney inner medulla produced by the specific V2 receptor antagonist OPC31260. J Physiol (Lond) 1997;499:57.
30. Ecelbarger CA, Nielsen S, Olson BR, Murase T, Baker EA, Knepper MA, et al. Role of renal aquaporins in escape from vasopressin-induced antidiuresis in rat. J Clin Invest 1997;99:1852-63.
31. Pan Y, Metzenberg A, Das S, Jing B, Gitschier J. Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. Nat Genet 1992;2:103-6.
32. Van den Ouweland AM, Dreesen JC, Verdijk M, Knoers NV. Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. Nat Genet 1992;2:99-102.
33. Rosenthal W, Seibold A, Antaramian A, Lonergan M, Arthus MF, Hendy GN. Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus. Nature 1992;359:233-5.
34. Van Lieburg AF, Verdijk MA, Schoute F, Ligtenberg MJ, Van Oost BA, Waldhauser F. Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation. Hum Genet 1995;96:70-8.
35. Arthus MF, Lonergan M, Crumley MJ, Naumova AK, Morin D, De Marco LA, et al. Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus. J Am Soc Nephrol 2000;11:1044-54.
36. Bichet DG. Vasopressin receptors in health and disease. Kidney Int 1996;49:1706-11.
37. Fujiwara TM, Morgan K, Bichet DG. Molecular biology of diabetes insipidus. Annu Rev Med 1995;46:331-43.
38. Wildin RS, Cogdell DE. Clinical utility of direct mutation testing for congenital nephrogenic diabetes insipidus in families. Pediatrics 1999;103:632-9.
39. Bichet DG, Fujiwara TM. Nephrogenic diabetes insipidus. In: Scriver CR, Beaudet AL, Sly WS, Vallee D, Childs B, Vogelstein B, editors. The metabolic and molecular basis of inherited disease. 8th Ed. New York: McGraw-Hill; 2000. p. 4181-204.
40. 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.
41. Rosenthal W, Antaramian A, Gilbert S, Birnbaumer M. Nephrogenic diabetes insipidus: a V2 vasopressin receptor unable to stimulate adenylyl cyclase. J Biol Chem 1993;268:13030-3.
42. Wenkert D, Schoneberg T, Merendino JJ, Pena MSR, Vinitsky R, Goldsmith PK. Functional characterization of five V2 vasopressin receptor gene mutations. Mol Cell Endocrinol 1996;124:43-50.
43. Pan Y, Wilson P, Gitschier J. The effect of eight V2 vasopressin receptor mutations on stimulation. J Biol Chem 1994;269:31933-7.
44. Oksche A, Schulein R, Rutz C, Liebenhoff U, Dickson J, Muller H. Vasopressin V2 receptor mutants that cause X-linked nephrogenic diabetes insipidus: analysis of expression, processing, and function. Mol Pharmacol 1996;50:820-8.
45. Albertazzi E, Zanchetta D, Barbier P, Chini B. Nephrogenic diabetes insipidus: functional analysis of new AVPR2 mutations identified in Italian families. J Am Soc Nephrol 2000;11:1033-43.
46. Morello JP, Salahpour A, Petaja-Repo UE, Laperiere A, Lonergan M, Arthus M-F, et al. Association of calnexin with wild type and mutant AVPR2 that cause nephrogenic diabetes insipidus. Biochem 2001;40:6766-75.
47. Morello JP, Salahpour A, Laperriere A, Bernier V, Arthus MF, 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.
48. Bichet DG, Razi M, Lonergan M, Arthus MF, Papukna V, Kortas C, et al. Hemodynamic and coagulation responses to ddAVP in patients with congenital nephrogenic diabetes insipidus. N Engl J Med 1988;318:881-7.
49. Lin SH, Bichet DG, Sasaki S, Kuwahara M, Arthus MF, Lonergan M, Lin YF. Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families. J Clin Endocrinol Metab 2002;87:2694-700.
50. Deen PM, Verdijk MA, Knoers NV. Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. Science 1994;264:92-5.
51. Bichet DG, Arthus MF, Lonergan M, Sasaki S. Autosomal dominant and autosomal recessive nephrogenic diabetes insipidus: novel mutations in the AQP2 gene (abstract). J Am Soc Nephrol 1995;6:717.
52. Deen PM, Croes H, van Aubel RA. Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing. J Clin Invest 1995;95:2291-6.
53. Oksche A, Moller A, Dickson J. 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.
54. Hochberg Z, van Lieburg AF, Even L. Autosomal recessive nephrogenic diabetes insipidus caused by an aquaporin-2 mutation. J Clin Endocrinol Metab 1997;82:686-9.
55. van Lieburg AF, Verdijk MAJ, Knoers NVAM. Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. Am J Hum Genet 1994;55:648-52.
56. Canfield MC, Tamarappoo BK, Moses AM, Verkman AS, Holtzman EJ. Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response. Hum Mol Genet 1997;6:1865-71.
57. Vargas-Poussou R, Forestier L, Dautzenberg MD, Niaudet P, 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.
58. Mulders SM, Knoers NVAM, van Lieburg AF. 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.
59. Deen PMT, Knoers NVAM. Physiology and pathophysiology of the aquaporin-2 water channel. Curr Opin Nephrol Hypertens 1998;7:37-42.
60. Tamarappoo BK, Verkman AS. Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones. J Clin Invest 1998;101:2257-67.
61. Marr N, Bichet DG, Hoefs S, Savelkoul PJ, Konings IB, De Mattia F, Graat MP, Arthus MF, Lonergan M, Fujiwara TM, Knoers NV, Landau D, Balfe WJ, Oksche A, Rosenthal W, Muller D, Van Os CH, Deen PM. Cell-biologic and functional analyses of five new aquaporin-2 missense mutations that cause recessive nephrogenic diabetes inspidus. J Am Soc Nephrol 2002;13:2267-77.
62. Tamarappoo BK, Yang B, Verkman AS. Misfolding of mutant aquaporin-2 water channels in nephrogenic diabetes insipidus. J Biol Chem 1999;274:34825-31.
63. Shinbo I, Fushimi K, Kasahara M, Marumo F. Functional analysis of aquaporin-2 mutants associated with nephrogenic diabetes insipidus by yeast expression. Am J Physiol 1999;277:F734-41.
64. Kuwahara M, Iwai K, Ooeda T, Igarashi T, Ogawa E, Katsushima Y, Shinbo I, Uchida S, Terada Y, Arthus MF, Lonergan M, Fujiwara TM, Bichet DG, Marumo F, Sasaki S. 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.
65. Mulders SM, Bichet DG, Rijss JPL, Deen PMT. 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.
66. Kamsteeg EJ, Wormhoudt TAM, Deen PMT. An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus. EMBO J 1999;18:2394-400.
67. Kamsteeg EJ, Deen PMT. Importance of aquaporin-2 expression levels in genotype-phenotype studies in nephrogenic diabetes insipidus. Am J Physiol Renal Physiol 2000;279:F778-84.
68. Marr N, Bichet DG, Lonergan M, Arthus MF, Jeck N, Seyberth HW, 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.
69. Simon DB, Karet FE, Hamdam JM, Di Pietro A, Sanjad SA, Lifton RP. Bartter's syndrome, hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 1996;13:183-8.
70. + channel, ROMK. Nat Genet 1996;14:152-6.
71. Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R, et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 1997;17:171-8.
72. + secretion. Nat 2001;414:558-61.
73. Matsumura Y, Uchida S, Kondo Y, Miyazaki H, Ko SBH, Hayama A, et al. Overt nephrogenic diabetes insipidus in mice lacking the CIC-K1 chloride channel. Nat Genet 1999;21:95-8.
74. Uchida S, Marumo F. Severely impaired urine-concentrating ability in mice lacking the CIC-K1 chloride channel. Exp Nephrol 2000;8:361-5.
75. Marples D, Christensen S, Ottosen PD, Nielson S. Lithium-induced downregulation of aquaporin-2 water channel expression in rat kidney medulla. J Clin Invest 1995;95:1838-45.
76. Christensen S, Kusano E, Yusufi AN, Murayama N, Dousa TP. Pathogenesis of nephrogenic diabetes insipidus due to chronic administration of lithium in rats. J Clin Invest 1985;75:1869-79.
77. Earm JH, Christensen BM, Nielsen S. Decreased aquaporin-2 expression and apical plasma membrane delivery in kidney collecting ducts of polyuric hypercalcemic rats. J Am Soc Nephrol 1998;9:2181-93.
78. + channels in the TAL. Am J Physiol 1996;271:C103-11.
79. Hebert SC. Extracellular calcium-sensing receptor: implications for calcium and magnesium handling in the kidney. Kidney Int 1996;50:2129-39.
80. Marples D, Frokiaer J, Dorup J, Knepper MA, Nielsen S. Hypokalemia-induced downregulation of aquaporin-2 water channel expression in rat kidney medulla and cortex. J Clin Invest 1996;97:1960-8.
81. Frokiaer J, Marples D, Knepper MA, Nielsen S. Bilateral ureteral obstruction downregulates expression of vasopressin-sensitive AQP-2 water channel in rat kidney. Am J Physiol 1996;270:F657-68.
82. Kwon TH, Frokiaer J, Knepper MA, Nielsen S. Reduced AQP-1, -2, and -3 levels in kidneys of rats with CRF induced by surgical reduction in renal mass. Am J Physiol 1998;275:F724-41.
83. Kishore BK, Krane CM, Iulio DD, Menon AG, Cacini W. Expression of renal aquaporins 1, 2, and 3 in a rat model of cisplatin-induced polyuria. Kidney Int 2000;58:701-11.
84. Konrad M, Leonhardt A, Hensen P, Seyberth HW, Kockerling A: Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes. Pediatrics 1999;103:678-83.
85. Nusing RM, Reinalter SC, Peters M, Komhoff M, Seyberth HW. Pathogenetic role of cyclooxygenase-2 in hyperprostaglandin E syndrome/antenatal Bartter syndrome: therapeutic use of the cyclooxygenase-2 inhibitor nimesulide. Clin Pharmacol Ther 2001;70:384-90.
86. Earley LE, Orloff J. The mechanism of antidiuresis associated with the administration of hydrochlorothiazide to patients with vasopressin-resistant diabetes insipidus. J Clin Invest 1962;41:1988-97.
87. Cesar KR, Magaldi AJ. Thiazide induces water absorption in the inner medullary collecting duct of normal and Brattleboro rats. Am J Physiol 1999;277:F756-60.
88. Batle DC, von Riottle AB, Gaviria M, Grupp M. Amelioration of polyuria by amiloride in patients receiving long-term lithium therapy. N Eng J Med 1985;312:408-14.
89. Libber S, Harrison H, Spector D. Treatment of nephrogenic diabetes insipidus with prostaglandin synthesis inhibitors. J Pediatr 1986;108:305-11.
90. Bichet DG, Ruel N, Arthus MF, Lonergan M. Rolipram, a phosphodiesterase inhibitor, in the treatment of two male patients with congenital nephrogenic diabetes insipidus. Nephron 1990;56:449-50.
91. Schoneberg T, Sandig V, Wess J, Gudermann T, Schultz G. Reconstitution of mutant V2 vasopressin receptors by adenovirusmediated gene transfer. J Clin Invest 1997;100:1547-56.
92. Verkman AS, Yang B. Aquaporin gene delivery to kidney. Kidney Int 2002;61:120-4.