Type 2 Pseudohypoaldosteronism: New Insights Into Renal Potassium, Sodium, and Chloride Handling

American Journal of Kidney Diseases

Volumn 48, Issue 4, 2006, Pages 674-693

  Proctor, Gregory ^a   Linas, Stuart ^a  

^a DENVER HEALTH MEDICAL CENTER   (United States)

Author keywords

epithelial sodium channel (ENaC); Gordon syndrome; hyperkalemia; kidney; potassium; Pseudohypoaldosteronism; renal; renal outer medullary potassium channel (ROMK); WNK1; WNK4

Indexed keywords

BICARBONATE; FLUDROCORTISONE;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CHLORIDE URINE LEVEL; CLINICAL FEATURE; HUMAN; LABORATORY TEST; MALE; POTASSIUM EXCRETION; POTASSIUM URINE LEVEL; PSEUDOHYPOALDOSTERONISM; SODIUM EXCRETION; SODIUM URINE LEVEL; TREATMENT OUTCOME; URINARY EXCRETION;

ADULT; ALDOSTERONE; CHLORIDES; ELECTROLYTES; HUMANS; HYPERKALEMIA; KIDNEY; MALE; POTASSIUM; PROTEIN ISOFORMS; PROTEIN-SERINE-THREONINE KINASES; PSEUDOHYPOALDOSTERONISM; SODIUM; WATER-ELECTROLYTE BALANCE;

EID: 33748755186     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.ajkd.2006.06.014     Document Type: Article

References (102)

1. Bonny O., and Rossier B.C. Disturbances of Na/K balance: Pseudohypoaldosteronism revisited. J Am Soc Nephrol 13 (2002) 2399-2414
2. Kuhnle U. Pseudohypoaldosteronism: Mutation found, problem solved?. Mol Cell Endocrinol 133 (1997) 77-80
3. Deray G., Benhmida M., Le Hoang P., et al. Renal function and blood pressure in patients receiving long-term, low-dose cyclosporine therapy for idiopathic autoimmune uveitis. Ann Intern Med 117 (1992) 578-583
4. Kamel K.S., Ethier J.H., Quaggin S., et al. Studies to determine the basis for hyperkalemia in recipients of a renal transplant who are treated with cyclosporine. J Am Soc Nephrol 2 (1992) 1279-1284
5. +-ATPase activity by cyclosporin A. Kidney Int 43 (1993) 246-251
6. + channels in rabbit cortical collecting tubule principal cells. Kidney Int 44 (1993) 974-984
7. Maruyama K., Watanabe H., and Onigata K. Reversible secondary pseudohypoaldosteronism due to pyelonephritis. Pediatr Nephrol 17 (2002) 1069-1070
8. Bulchmann G., Schuster T., Heger A., Kuhnle U., Joppich I., and Schmidt H. Transient pseudohypoaldosteronism secondary to posterior urethral valves-A case report and review of the literature. Eur J Pediatr Surg 11 (2001) 277-279
9. Malnic G., Klose R.M., and Giebisch G. Micropuncture study of distal tubular potassium and sodium transport in rat nephron. Am J Physiol 211 (1966) 529-547
10. Jamison R.L. Potassium recycling. Kidney Int 31 (1987) 695-703
11. Giebisch G., and Wang W. Potassium transport: From clearance to channels and pumps. Kidney Int 49 (1996) 1624-1631
12. Velazquez H., Wright F.S., and Good D.W. Luminal influences on potassium secretion: Chloride replacement with sulfate. Am J Physiol 242 (1982) F46-F55
13. + transport of the cortical collecting duct. Am J Physiol 248 (1985) F858-F868
14. Sansom S., Muto S., and Giebisch G. Na-dependent effects of DOCA on cellular transport properties of CCDs from ADX rabbits. Am J Physiol 253 (1987) F753-F759
15. Masilamani S., Kim G.H., Mitchell C., Wade J.B., and Knepper M.A. Aldosterone-mediated regulation of ENaC alpha, beta, and gamma subunit proteins in rat kidney. J Clin Invest 104 (1999) R19-R23
16. Kemendy A.E., Kleyman T.R., and Eaton D.C. Aldosterone alters the open probability of amiloride-blockable sodium channels in A6 epithelia. Am J Physiol 263 (1992) C825-C837
17. Horisberger J.D., and Rossier B.C. Aldosterone regulation of gene transcription leading to control of ion transport. Hypertension 19 (1992) 221-227
18. Okusa M.D., Unwin R.J., Velazquez H., Giebisch G., and Wright F.S. Active potassium absorption by the renal distal tubule. Am J Physiol 262 (1992) F488-F493
19. Wingo C.S., Madsen K.M., Smolka A., and Tisher C.C. H-K-ATPase immunoreactivity in cortical and outer medullary collecting duct. Kidney Int 38 (1990) 985-990
20. Stetson D.L., Wade J.B., and Giebisch G. Morphologic alterations in the rat medullary collecting duct following potassium depletion. Kidney Int 17 (1980) 45-56
21. Garg L.C., and Narang N. Suppression of ouabain-insensitive K-ATPase activity in rabbit nephron segments during chronic hyperkalemia. Ren Physiol Biochem 12 (1989) 295-301
22. Kraut J.A., Hiura J., Besancon M., Smolka A., Sachs G., and Scott D. Effect of hypokalemia on the abundance of HK alpha 1 and HK alpha 2 proteins in the rat kidney. Am J Physiol 272 (1997) F744-F750
23. Squires R.D., and Huth E.J. Experimental potassium depletion in normal human subjects. I. Relation of ionic intakes to the renal conservation of potassium. J Clin Invest 38 (1959) 1134-1148
24. Cheek D.B., and Perry J.W. A salt wasting syndrome in infancy. Arch Dis Child 339 (1958) 252-256
25. Armanini D., Kuhnle U., Strasser T., et al. Aldosterone-receptor deficiency in pseudohypoaldosteronism. N Engl J Med 5 313 (1985) 1178-1181
26. Hanukoglu A. Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J Clin Endocrinol Metab 73 (1991) 936-944
27. Sartorato P., Khaldi Y., Lapeyraque A.L., et al. Inactivating mutations of the mineralocorticoid receptor in type I pseudohypoaldosteronism. Mol Cell Endocrinol 217 (2004) 119-125
28. Chang S.S., Grunder S., Hanukoglu A., et al. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet 12 (1996) 248-253
29. Edelheit O., Hanukoglu I., Gizewska M., et al. Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism. Clin Endocrinol 62 (2005) 547-553
30. Kellenberger S., and Schild L. Epithelial sodium channel/degenerin family of ion channels: A variety of functions for a shared structure. Physiol Rev 82 (2002) 735-767
31. Zennaro M.C., and Lombès M. Mineralocorticoid resistance. Trends Endocrinol Metab 15 (2004) 264-269
32. Rossier B.C., Pradervand S., Schild L., and Hummler E. Epithelial sodium channel and the control of sodium balance: Interaction between genetic and environmental factors. Ann Rev Physiol 64 (2002) 877-897
33. Paver W.K.A., and Pauline G.J. Hypertension and hyperpotassaemia without renal disease in a young male. Med J Aust 2 (1964) 305-306
34. Stokes G.S., Gentle J.L., Edwards K.D., and Stewart J.H. Syndrome of idiopathic hyperkalaemia and hypertension with decreased plasma renin activity: Effects on plasma renin and aldosterone of reducing the serum potassium level. Med J Aust 2 (1968) 1050-1054
35. Arnold J.E., and Healy J.K. Hyperkalemia, hypertension and systemic acidosis without renal failure associated with a tubular defect in potassium excretion. Am J Med 47 (1969) 461-472
36. Gordon R.D., Geddes R.A., Pawsey C.G.K., and O'Halloran M.W. Hypertension and severe hyperkalaemia associated with suppression of renin and aldosterone and completely reversed by dietary sodium restriction. Aust Ann Med 4 (1970) 287-294
37. Young D.B. Relationship between plasma potassium concentration and renal potassium excretion. Am J Physiol 242 (1982) F599-F604
38. Young D.B. Quantitative analysis of aldosterone's role in potassium regulation. Am J Physiol Renal Fluid Electrolyte Physiol 255 (1988) F811-F822
39. Schambelan M., Sebastian A., and Rector F.C. Mineralocorticoid-resistant renal hyperkalemia without salt wasting (type II pseudohypoaldosteronism): Role of increased renal chloride reabsorption. Kidney Int 19 (1981) 716-727
40. Kurtzman N.A., White M.G., and Rogers P.W. The effect of potassium and extracellular volume on renal bicarbonate reabsorption. Metabolism 22 (1973) 481-492
41. Tannen R.L. Relationship of renal ammonia production and potassium homeostasis. Kidney Int 11 (1977) 453-465
42. Achard J.M., Disse-Nicodeme S., Fiquiet-Kempf B., and Jeunemaitre X. Phenotypic and genetic heterogeneity of familial hyperkalaemic hypertension (Gordon syndrome). Clin Exp Pharmacol Physiol 28 (2001) 1048-1052
43. Gordon R.D. Syndrome of hypertension and hyperkalemia with normal glomerular filtration rate. Hypertension 8 (1986) 93-102
44. Achard J.M., Warnock D.G., Disse-Nicodeme S., et al. Familial hyperkalemic hypertension: Phenotypic analysis in a large family with the WNK1 deletion mutation. Am J Med 114 (2003) 495-498
45. Sanjad S.A., Keenan B.S., and Hill L.L. Renal hypoprostaglandism, hypertension, and type IV renal tubular acidosis reversed by furosemide. Ann Intern Med 99 (1983) 624-627
46. Farfel Z., Iaina A., Rosenthal T., Waks U., Shibolet S., and Gafni J. Familial hyperpotassemia and hypertension accompanied by normal plasma aldosterone levels: Possible hereditary cell membrane defect. Arch Intern Med 138 (1978) 1828-1832
47. Licht J.H., Amundson D., Hsueh W.A., and Lombardo J.V. Familiar hyperkalaemic acidosis. Q J Med 54 (1985) 161-176
48. Brautbar N., Levi J., Rosler A., et al. Familial hyperkalemia, hypertension, and hyporeninemia with normal aldosterone levels. A tubular defect in potassium handling. Arch Intern Med 138 (1978) 607-610
49. Achard J.M., Disse-Nicodeme S., Fiquet-Kempf B., and Jeunemaitre X. Phenotypic and genetic heterogeneity of familial hyperkalaemic hypertension (Gordon syndrome). Clin Exp Pharmacol Physiol 28 (2001) 1048-1052
50. Gordon R.D., and Hodsman G.P. The syndrome of hypertension and hyperkalaemia without renal failure: Long term correction by thiazide diuretic. Scott Med J 31 (1986) 43-44
51. Lee M.R., Ball S.G., Thomas T.H., and Morgan D.B. Hypertension and hyperkalaemia responding to bendrofluazide. Q J Med 48 (1979) 245-258
52. Pasman J.W., Gabreels F.J., Semmekrot B., Renier W.O., and Monnens L.A. Hyperkalemic periodic paralysis in Gordon's syndrome: A possible defect in atrial natriuretic peptide function. Ann Neurol 26 (1989) 392-395
53. Throckmorton D.C., and Bia M.J. Pseudohypoaldosteronism: Case report and discussion of the syndrome. Yale J Biol Med 64 (1991) 247-254
54. Mansfield T.A., Simon D.B., Farfel Z., et al. Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21. Nat Genet 16 (1997) 202-205
55. Disse-Nicodeme S., Achard J.M., Desitter I., et al. A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. Am J Hum Genet 67 (2000) 302-310
56. Disse-Nicodeme S., Desitter I., Fiquet-Kempf B., et al. Genetic heterogeneity of familial hyperkalaemic hypertension. J Hypertens 19 (2001) 1957-1964
57. Wilson F.H., Disse-Nicodeme S., Choate K.A., et al. Human hypertension caused by mutation in WNK kinases. Science 293 (2001) 1107-1112
58. Xu B., English J.M., Wilsbacher J.L., Stippec S., Goldsmith E.J., and Cobb M.H. WNK1, a novel mammalian serine/threonine protein kinase lacking the catalytic lysine in subdomain II. J Biol Chem 275 (2000) 16795-16801
59. Verissimo F., and Jordan P. WNK kinases, a novel protein kinase subfamily in multi-cellular organisms. Oncogene 20 (2001) 5562-5569
60. - transporting epithelia. Proc Natl Acad Sci U S A 100 (2003) 663-668
61. Yamauchi K., Rai T., Kobayashi K., et al. Disease-causing mutant WNK4 increases paracellular chloride permeability and phosphorylates claudins. Proc Natl Acad Sci U S A 101 (2004) 4690-4694
62. Wilson F.H., Kahle K.T., Sabath E., et al. Molecular pathogenesis of inherited hypertension with hyperkalemia: The Na-Cl cotransporter is inhibited by wild-type but not mutant WNK4. Proc Natl Acad Sci U S A 100 (2003) 680-684
63. Yang C.L., Angell J., Mitchell R., and Ellison D.H. WNK kinases regulate thiazide-sensitive Na-Cl cotransport. J Clin Invest 111 (2003) 1039-1045
64. + secretion. Nat Genet 35 (2003) 372-376
65. - flux in extrarenal epithelia. Proc Natl Acad Sci U S A 101 (2004) 2064-2069
66. Madara J.L. Regulation of the movement of solutes across tight junctions. Annu Rev Physiol 60 (1998) 143-159
67. Peter Y., and Goodenough D. Claudins. Curr Biol 14 (2004) R293-R294
68. Colegio O.R., Van Itallie C.M., McCrea H.J., Rahner C., and Anderson J.M. Claudins create charge-selective channels in the paracellular pathway between epithelial cells. Am J Physiol Cell Physiol 283 (2002) C142-C147
69. Yang C.L., Zhu X., Wang Z., Subramanya A.R., and Ellison D.H. Mechanisms of WNK1 and WNK4 interaction in the regulation of thiazide-sensitive NaCl cotransport. J Clin Invest 115 (2005) 1379-1387
70. Zambrowicz B.P., Abuin A., Ramirez-Solis R., et al. WNK1 kinase deficiency lowers blood pressure in mice: A gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A 100 (2003) 14109-14114
71. Lee D.B., Huang E., and Ward H.J. Tight junction biology and kidney dysfunction. Am J Physiol Renal Physiol 290 (2006) F20-F34
72. Min X., Lee B.H., Cobb M.H., and Goldsmith E.J. Crystal structure of the kinase domain of WNK1, a kinase that causes a hereditary form of hypertension. Structure 12 (2004) 1303-1311
73. Delaloy C., Lu J., Houot A.M., et al. Multiple promoters in the WNK1 gene: One controls expression of a kidney-specific kinase-defective isoform. Mol Cell Biol 23 (2003) 9208-9221
74. O'Reilly M., Marshall E., Speirs J.H., and Brown R.W. WNK1, a gene within a novel blood pressure control pathway, tissue-specifically generates radically different isoforms with and without a kinase domain. J Am Soc Nephrol 14 (2003) 2447-2456
75. Hadchouel J., Delaloy C., Faure S., Achard J.M., and Jeunemaitre X. Familial hyperkalemic hypertension. J Am Soc Nephrol 17 (2006) 208-217
76. Kroiher M., Miller M.A., and Steele R.E. Deceiving appearances: Signaling by "dead" and "fractured" receptor protein-tyrosine kinases. Bioessays 23 (2001) 69-76
77. Subramanya A.R., Yang C.L., Zhu X., and Ellison D.H. Dominant-negative regulation of WNK1 by its kidney-specific kinase-defective isoform. Am J Physiol Renal Physiol 290 (2006) F619-F624
78. Xu B.E., Stippec S., Chu P.Y., et al. WNK1 activates SGK1 to regulate the epithelial sodium channel. Proc Natl Acad Sci U S A 102 (2005) 10315-10320
79. + transport. Proc Natl Acad Sci U S A 101 (2004) 17434-17439
80. Debonneville C., Flores S.Y., Kamynina E., et al. Phosphorylation of Nedd4-2 by SGK1 regulates epithelial Na(+) channel cell surface expression. EMBO J 20 (2001) 7052-7059
81. +. J Am Soc Nephrol 14 (2003) 1107-1115
82. Fuller P.J., and Young M.J. Mechanism of mineralocorticoid action. Hypertension 46 (2005) 1227-1235
83. Brennan F.E., and Fuller P.J. Rapid upregulation of serum and glucocorticoid-regulated kinase (sgk) gene expression by corticosteroids in vivo. Mol Cell Endocrinol 166 (2000) 129-136
84. Bhargava A., Fullerton M.J., Myles K., et al. The serum- and glucocorticoid-induced kinase is a physiological mediator of aldosterone action. Endocrinology 142 (2001) 1587-1594
85. McCormick J.A., Bhalla V., Pao A.C., and Pearce D. SGK1: A rapid aldosterone-induced regulator of renal sodium reabsorption. Physiology 20 (2004) 134-139
86. Vallon V., Wulff P., Huang D.Y., et al. Role of SKG1 in salt and potassium homeostasis. Am J Physiol 288 (2005) R4-R10
87. Wulff P., Vallon V., Huang D.Y., et al. Impaired renal Na(+) retention in the sgk1-knockout mouse. J Clin Invest 110 (2002) 1263-1268
88. Lifton R.P., Gharavi A.G., and Geller D.S. Molecular mechanisms of human hypertension. Cell 104 (2001) 545-556
89. Lazrak A., Liu Z., and Huang C.-L. Antagonistic regulation of ROMK by long and kidney-specific WNK1 isoforms. Proc Natl Acad Sci U S A 103 (2006) 1615-1620
90. Chen W.J., Goldstein J.L., and Brown M.S. NPXY, a sequence often found in cytoplasmic tails, is required for coated pit-mediated internalization of the low density lipoprotein receptor. J Biol Chem 265 (1990) 3116-3123
91. Wang W. Regulation of renal K transport by dietary K intake. Annu Rev Physiol 66 (2004) 547-569
92. Palmer L.G., Antonian L., and Frindt G. Regulation of apical K and Na channels and Na/K pumps in rat cortical collecting tubule by dietary K. J Gen Physiol 104 (1994) 693-710
93. Chu P.Y., Quigley R., Babich V., and Huang C.L. Dietary potassium restriction stimulates endocytosis of ROMK channel in rat cortical collecting duct. Am J Physiol Renal Physiol 285 (2003) F1179-F1187
94. Levy D., DeStefano A.L., Larson M.G., et al. Evidence for a gene influencing blood pressure on chromosome 17. Genome scan linkage results for longitudinal blood pressure phenotypes in subjects from the Framingham heart study. Hypertension 36 (2000) 477-483
95. Tobin M.D., Raleigh S.M., Newhouse S., et al. Association of WNK1 gene polymorphisms and haplotypes with ambulatory blood pressure in the general population. Circulation 112 (2005) 3423-3429
96. Erlich P.M., Cui J., Chazaro I., et al. Genetic variants of WNK4 in whites and African Americans with hypertension. Hypertension 41 (2003) 1191-1195
97. Kim G.H., Masilamani S., Tuner R., Mitchell C., Wade J.B., and Knepper M.A. The thiazide-sensitive Na-Cl cotransporter is an aldosterone-induced protein. Proc Natl Acad Sci U S A 95 (1998) 14552-14557
98. Velazquez H., Bariss A., Bernstein P., and Ellison D.H. Adrenal steroids stimulate thiazide-sensitive NaCl transport by rat renal distal tubules. Am J Physiol Renal Fluid Electrolyte Physiol 270 (1996) F211-F219
99. Nielsen J., Kwon T.H., Masilamani S., et al. Sodium transporter abundance profiling in kidney: Effect of spironolactone. Am J Physiol Renal Physiol 283 (2002) F923-F933
100. Bindels R.J.M. A molecular switch controlling renal sodium and potassium excretion. Nat Genet 35 (2003) 302-303
101. Gamba G. Role of WNK kinases in regulating tubular salt and potassium transport and in the development of hypertension. Am J Physiol Renal Physiol 288 (2005) F245-F252
102. Kahle K.T., Wilson F.H., and Lifton R.P. Regulation of diverse ion transport pathways by WNK4 kinase: A novel molecular switch. Trends Endocrinol Metab 16 (2005) 98-103