Aldosterone resistance: Structural and functional considerations and new perspectives

Molecular and Cellular Endocrinology

Volumn 350, Issue 2, 2012, Pages 206-215

  Zennaro, Maria Christina ^a,b,c   Hubert, Edwige Ludiwyne ^a,b   Fernandes Rosa, Fábio L ^a,b  

^a PARIS CARDIOVASCULAR RESEARCH CENTER   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

Author keywords

Aldosterone; Epithelial sodium channel; Mineralocorticoid receptor; Mineralocorticoid resistance; Pseudohypoaldosteronisme type 1; Salt homeostasis

Indexed keywords

ALDOSTERONE; FLUDROCORTISONE; HYDROCORTISONE; MINERALOCORTICOID RECEPTOR; RENIN; SODIUM;

ALDOSTERONE URINE LEVEL; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; ENAC GENE; GENE; GENE EXPRESSION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMEOSTASIS; HOMOZYGOSITY; HORMONAL REGULATION; HUMAN; MISSENSE MUTATION; MR GENE; NEPHRON; NONHUMAN; PATHOGENESIS; PLASMA RENIN ACTIVITY; PRIORITY JOURNAL; PSEUDOHYPOALDOSTERONISM; REHYDRATION; REVIEW; SODIUM ABSORPTION;

ALDOSTERONE; ANIMALS; DRUG RESISTANCE; EPITHELIAL SODIUM CHANNEL; GENETIC ASSOCIATION STUDIES; HUMANS; MODELS, BIOLOGICAL; MUTANT PROTEINS; MUTATION; PROTEIN INTERACTION DOMAINS AND MOTIFS; PSEUDOHYPOALDOSTERONISM; RECEPTORS, MINERALOCORTICOID; STRUCTURE-ACTIVITY RELATIONSHIP; WATER-ELECTROLYTE BALANCE;

EID: 84856347768     PISSN: 03037207     EISSN: 18728057     Source Type: Journal    
DOI: 10.1016/j.mce.2011.04.023     Document Type: Review

References (131)

1. Adachi M., Tachibana K., Asakura Y., Abe S., Nakae J., Tajima T., Fujieda K. Compound heterozygous mutations in the gamma subunit gene of ENaC (1627delG and 1570-1G->A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1. J. Clin. Endocrinol. Metab. 2001, 86:9-12.
2. Adachi M., Asakura Y., Muroya K., Tajima T., Fujieda K., Kuribayashi E., Uchida S. Increased Na reabsorption via the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronism. Clin. Exp. Nephrol. 2010, 14:228-232.
3. Akkurt I., Kuhnle U., Ringenberg C. Pseudohypo-aldosteronism and cholelithiasis: coincidence or pathogenetic correlation?. Eur. J. Pediatr. 1997, 156:363-366.
4. Arai K., Tsigos C., Suzuki Y., Irony I., Karl M., Listwak S., Chrousos G.P. Physiological and molecular aspects of mineralocorticoid action in pseudohypoaldosteronism: a responsiveness test and therapy. J. Clin. Endocrinol. Metab. 1994, 79:1019-1023.
5. Armanini D., Kuhnle U., Strasser T., Dorr H., Butenandt I., Weber P., Stockigt J.R., Pearce P., Funder J.W. Aldosterone receptor deficiency in pseudohypoaldosteronism. N. Engl. J. Med. 1985, 313:1178-1181.
6. Barker P.M., Nguyen M.S., Gatzy J.T., Grubb B., Norman H., Hummler E., Rossier B., Boucher R.C., Koller B. Role of gamma ENaC subunit in lung liquid clearance and electrolyte balance in newborn mice. Insights into perinatal adaptation and pseudohypoaldosteronism. J. Clin. Invest. 1998, 102:1634-1640.
7. Belot A., Ranchin B., Fichtner C., Pujo L., Rossier B.C., Liutkus A., Morlat C., Nicolino M., Zennaro M.C., Cochat P. Pseudohypoaldosteronisms, report on a 10-patient series. Nephrol. Dial. Transplant. 2008, 23:1636-1641.
8. Berger S., Bleich M., Schmid W., Cole T.J., Peters J., Watanabe H., Kriz W., Warth R., Greger R., Schutz G. Mineralocorticoid receptor knockout mice. pathophysiology of Na+ metabolism. Proc. Natl. Acad. Sci. USA 1998, 95:9424-9429.
9. Bhalla V., Soundararajan R., Pao A.C., Li H., Pearce D. Disinhibitory pathways for control of sodium transport: regulation of ENaC by SGK1 and GILZ. Am. J. Physiol. Renal Physiol. 2006, 291:F714-F721.
10. Bhalla V., Hallows K.R. Mechanisms of ENaC regulation and clinical implications. J. Am. Soc. Nephrol. 2008, 19:1845-1854.
11. Biner H.L., Arpin-Bott M.P., Loffing J., Wang X., Knepper M., Hebert S.C., Kaissling B. Human cortical distal nephron: distribution of electrolyte and water transport pathways. J. Am. Soc. Nephrol. 2002, 13:836-847.
12. Bledsoe R.K., Madauss K.P., Holt J.A., Apolito C.J., Lambert M.H., Pearce K.H., Stanley T.B., Stewart E.L., Trump R.P., Willson T.M., Williams S.P. A ligand-mediated hydrogen bond network required for the activation of the mineralocorticoid receptor. J. Biol. Chem. 2005, 280:31283-31293.
13. Bleich M., Warth R., Schmidt-Hieber M., Schulz-Baldes A., Hasselblatt P., Fisch D., Berger S., Kunzelmann K., Kriz W., Schutz G., Greger R. Rescue of the mineralocorticoid receptor knock-out mouse. Pflugers Arch. 1999, 438:245-254.
14. Bloem L.J., Guo C., Pratt J.H. Identification of a splice variant of the rat and human mineralocorticoid receptor genes. J. Steroid Biochem. Mol. Biol. 1995, 55:159-162.
15. Bonny O., Knoers N., Monnens L., Rossier B.C. A novel mutation of the epithelial Na+ channel causes type 1 pseudohypoaldosteronism. Pediatr. Nephrol. 2002, 17:804-808.
16. Bonny O., Chraibi A., Loffing J., Jaeger N.F., Grunder S., Horisberger J.D., Rossier B.C. Functional expression of a pseudohypoaldosteronism type I mutated epithelial Na+ channel lacking the pore-forming region of its alpha subunit. J. Clin. Invest. 1999, 104:967-974.
17. Bosson D., Kuhnle U., Mees N., Ramet J., Vamos E., Vertongen F., Wolter R., Armanini D. Generalized unresponsiveness to mineralocorticoid hormones: familial recessive pseudohypoaldosteronism due to aldosterone-receptor deficiency. Acta Endocrinol. Suppl. (Copenh.) 1986, 279:376-380.
18. Bostanjoglo M., Reeves W.B., Reilly R.F., Velazquez H., Robertson N., Litwack G., Morsing P., Dorup J., Bachmann S., Ellison D.H. 11Beta-hydroxysteroid dehydrogenase, mineralocorticoid receptor, and thiazide-sensitive Na-Cl cotransporter expression by distal tubules. J. Am. Soc. Nephrol. 1998, 9:1347-1358.
19. Boucher R.C. Cystic fibrosis: a disease of vulnerability to airway surface dehydration. Trends Mol. Med. 2007, 13:231-240.
20. Bulchmann G., Schuster T., Heger A., Kuhnle U., Joppich I., Schmidt H. Transient pseudohypoaldosteronism secondary to posterior urethral valves-a case report and review of the literature. Eur. J. Pediatr. Surg. 2001, 11:277-279.
21. Butterworth M.B., Weisz O.A., Johnson J.P. Some assembly required: putting the epithelial sodium channel together. J. Biol. Chem. 2008, 283:35305-35309.
22. Campean V., Kricke J., Ellison D., Luft F.C., Bachmann S. Localization of thiazide-sensitive Na(+)-Cl(-) cotransport and associated gene products in mouse DCT. Am. J. Physiol. Renal Physiol. 2001, 281:F1028-F1035.
23. Canessa C.M., Schild L., Buell G., Thorens B., Gautschi I., Horisberger J.D., Rossier B.C. Amiloride-Sensitive epithelial Na+ channel is made of three homologous subunits. Nature 1994, 367:463-467.
24. Chang S.S., Grunder S., Hanukoglu A., Rosler A., Mathew P.M., Hanukoglu I., Schild L., Lu Y., Shimkets R.A., Nelson-Williams C., Rossier B.C., Lifton R.P. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat. Genet. 1996, 12:248-253.
25. Cheek D.B., Perry J.W., 1958. A salt wasting syndrome in infancy. Arch. Dis. Child. 252-256.
26. Christensen B.M., Perrier R., Wang Q., Zuber A.M., Maillard M., Mordasini D., Malsure S., Ronzaud C., Stehle J.C., Rossier B.C., Hummler E. Sodium and potassium balance depends on alphaENaC expression in connecting tubule. J. Am. Soc. Nephrol. 2010, 21:1942-1951.
27. Deppe C.E., Heering P.J., Viengchareun S., Grabensee B., Farman N., Lombes M. Cyclosporine a and FK506 inhibit transcriptional activity of the human mineralocorticoid receptor: a cell-based model to investigate partial aldosterone resistance in kidney transplantation. Endocrinology 2002, 143:1932-1941.
28. Dirlewanger M., Huser D., Zennaro M.C., Girardin E., Schild L., Schwitzgebel V., 2011. A homozygous missense mutation in SCNN1A is responsible for a transient form of pseudohypoaldosteronism type 1. Am. J. Physiol. Endocrinol. Metab., in press.
29. Edelheit O., Hanukoglu I., Gizewska M., Kandemir N., Tenenbaum-Rakover Y., Yurdakok M., Zajaczek S., Hanukoglu A. Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism. Clin. Endocrinol. (Oxf.) 2005, 62:547-553.
30. Edelheit O., Hanukoglu I., Shriki Y., Tfilin M., Dascal N., Gillis D., Hanukoglu A. Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC. J. Steroid Biochem. Mol. Biol. 2010, 119:84-88.
31. Escoubet B., Coureau C., Bonvalet J.P., Farman N. Noncoordinate regulation of epithelial Na channel and Na pump subunit mRNAs in kidney and colon by aldosterone. Am. J. Physiol. 1997, 272:C1482-C1491.
32. Fagart J., Wurtz J.M., Souque A., Hellal-Levy C., Moras D., Rafestin-Oblin M.E. Antagonism in the human mineralocorticoid receptor. Embo J. 1998, 17:3317-3325.
33. Fagart J., Huyet J., Pinon G.M., Rochel M., Mayer C., Rafestin-Oblin M.E. Crystal structure of a mutant mineralocorticoid receptor responsible for hypertension. Nat. Struct. Mol. Biol. 2005, 12:554-555.
34. Farman N., Talbot C.R., Boucher R., Fay M., Canessa C., Rossier B., Bonvalet J.P. Noncoordinated expression of alpha-, beta-, and gamma-subunit mRNAs of epithelial Na+ channel along rat respiratory tract. Am. J. Physiol. 1997, 272:C131-C141.
35. Farman N., Rafestin-Oblin M.E. Multiple aspects of mineralocorticoid selectivity. Am. J. Physiol. Renal Physiol. 2001, 280:F181-F192.
36. Feldshtein M., Elkrinawi S., Yerushalmi B., Marcus B., Vullo D., Romi H., Ofir R., Landau D., Sivan S., Supuran C.T., Birk O.S. Hyperchlorhydrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII. Am. J. Hum. Genet. 2010, 87:713-720.
37. Fernandes-Rosa F.L., de Castro M., Latronico A.C., Sippell W.G., Riepe F.G., Antonini S.R. Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene. J. Clin. Endocrinol. Metab. 2006, 91:3671-3675.
38. Fernandes-Rosa F.L., Hubert E.L., Fagart J., Tchitchek N., Gomes D., Jouanno E., Benecke A., Rafestin-Oblin M.E., Jeunemaitre X., Antonini S.R., Zennaro M.C. Mineralocorticoid receptor mutations differentially affect individual gene expression profiles in pseudohypoaldosteronism type 1. J. Clin. Endocrinol. Metab. 2011, 96:E519-E527.
39. Finer G., Shalev H., Birk O.S., Galron D., Jeck N., Sinai-Treiman L., Landau D. Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome. J. Pediatr. 2003, 142:318-323.
40. Geller D.S., Rodriguez-Soriano J., Vallo Boado A., Schifter S., Bayer M., Chang S.S., Lifton R.P. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat. Genet. 1998, 19:279-281.
41. Geller D.S. Mineralocorticoid resistance. Clin. Endocrinol. (Oxf.) 2005, 62:513-520.
42. Geller D.S., Zhang J., Zennaro M.C., Vallo-Boado A., Rodriguez-Soriano J., Furu L., Haws R., Metzger D., Botelho B., Karaviti L., Haqq A.M., Corey H., Janssens S., Corvol P., Lifton R.P. Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. J. Am. Soc. Nephrol. 2006, 17:1429-1436.
43. Hanaki K., Ohzeki T., Iitsuka T., Nagata I., Urashima H., Tsukuda T., Nagaishi J., Shiraki K., Shimizu N., Kaibara N. An infant with pseudohypoaldosteronism accompanied by cholelithiasis. Biol. Neonate 1994, 65:85-88.
44. Hanukoglu A. Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J. Clin. Endocrinol. Metab. 1991, 73:936-944.
45. Hanukoglu A., Edelheit O., Shriki Y., Gizewska M., Dascal N., Hanukoglu I. Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes. J. Steroid Biochem. Mol. Biol. 2008, 111:268-274.
46. Hanukoglu A., Hanukoglu I. Clinical improvement in patients with autosomal recessive pseudohypoaldosteronism and the necessity for salt supplementation. Clin. Exp. Nephrol. 2010, 14:518-519.
47. Holtback U., Aperia A.C. Molecular determinants of sodium and water balance during early human development. Semin. Neonatol. 2003, 8:291-299.
48. Hubert E.L., Teissier R., Fernandes-Rosa F.L., Fay M., Rafestin-Oblin M.E., Jeunemaitre X., Metz C., Escoubet B., Zennaro M.C., 2011. Mineralocorticoid receptor mutations and a severe recessive pseudohypoaldosteronism type 1. J. Am. Soc. Nephrol. in press.
49. Hummler E., Barker P., Gatzy J., Beermann F., Verdumo C., Schmidt A., Boucher R., Rossier B.C. Early death due to defective neonatal lung liquid clearance in alpha-ENaC-deficient mice. Nat. Genet. 1996, 12:325-328.
50. Hummler E., Planes C. Importance of ENaC-mediated sodium transport in alveolar fluid clearance using genetically-engineered mice. Cell. Physiol. Biochem. 2010, 25:63-70.
51. Huyet J., Pinon G.M., Fay M.R., Fagart J., Rafestin-Oblin M.E. Structural basis of spirolactone recognition by the mineralocorticoid receptor. Mol. Pharmacol. 2007, 72:563-571.
52. Jasti J., Furukawa H., Gonzales E.B., Gouaux E. Structure of acid-sensing ion channel 1 at 1.9A resolution and low pH. Nature 2007, 449:316-323.
53. Ji W., Foo J.N., O'Roak B.J., Zhao H., Larson M.G., Simon D.B., Newton-Cheh C., State M.W., Levy D., Lifton R.P. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat. Genet. 2008, 40:592-599.
54. Kellenberger S., Schild L. Epithelial sodium channel/degenerin family of ion channels: a variety of functions for a shared structure. Physiol. Rev. 2002, 82:735-767.
55. Kerem E., Bistritzer T., Hanukoglu A., Hofmann T., Zhou Z., Bennett W., MacLaughlin E., Barker P., Nash M., Quittell L., Boucher R., Knowles M.R. Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism. N. Engl. J. Med. 1999, 341:156-162.
56. Kim G.H., Masilamani S., Turner R., Mitchell C., Wade J.B., Knepper M.A. The thiazide-sensitive Na-Cl cotransporter is an aldosterone-induced protein. Proc. Natl. Acad. Sci. USA 1998, 95:14552-14557.
57. Komesaroff P., Verity K., Fuller P.J. Pseudohypoaldosteronism: molecular characterisation of the mineralocorticoid receptor. J. Clin. Endocrinol. Metab. 1994, 79:27-31.
58. +-ATPase. Kidney Int. 2006, 70:1706-1716.
59. Kuhnle U., Nielsen M.D., Tietze H.U., Schroeter C.H., Schlamp D., Bosson D., Knorr D., Armanini D. Pseudohypoaldosteronism in eight families: different forms of inheritance are evidence for various genetic defects. J. Clin. Endocrinol. Metab. 1990, 70:638-641.
60. Kuhnle U. Pseudohypoaldosteronism: mutation found, problem solved?. Mol. Cell. Endocrinol. 1997, 133:77-80.
61. Lavery D.N., McEwan I.J. Structure and function of steroid receptor AF1 transactivation domains: induction of active conformations. Biochem. J. 2005, 391:449-464.
62. Li Y., Suino K., Daugherty J., Xu H.E. Structural and biochemical mechanisms for the specificity of hormone binding and coactivator assembly by mineralocorticoid receptor. Mol. Cell. 2005, 19:367-380.
63. Loffing J., Loffing-Cueni D., Valderrabano V., Klausli L., Hebert S.C., Rossier B.C., Hoenderop J.G., Bindels R.J., Kaissling B. Distribution of transcellular calcium and sodium transport pathways along mouse distal nephron. Am. J. Physiol. Renal Physiol. 2001, 281:F1021-F1027.
64. Loffing J., Kaissling B. Sodium and calcium transport pathways along the mammalian distal nephron: from rabbit to human. Am. J. Physiol. Renal Physiol. 2003, 284:F628-F643.
65. Loomba-Albrecht L.A., Nagel M., Bremer A.A. Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor gene. Horm. Res. Paediatr. 2010, 73:482-486.
66. Ludwig M., Bolkenius U., Wickert L., Marynen P., Bidlingmaier F. Structural organisation of the gene encoding the alpha-subunit of the human amiloride-sensitive epithelial sodium channel. Hum. Genet. 1998, 102:576-581.
67. Luisi B.F., Xu W.X., Otwinowski Z., Freedman L.P., Yamamoto K.R., Sigler P.B. Crystallographic analysis of the interaction of the glucocorticoid receptor with DNA. Nature 1991, 352:497-505.
68. Mangelsdorf D.J., Thummel C., Beato M., Herrlich P., Schutz G., Umesono K., Blumberg B., Kastner P., Mark M., Chambon P., Evans R.M. The nuclear receptor superfamily: the second decade. Cell 1995, 83:835-839.
69. Marthinsen L., Kornfalt R., Aili M., Andersson D., Westgren U., Schaedel C. Recurrent Pseudomonas bronchopneumonia and other symptoms as in cystic fibrosis in a child with type I pseudohypoaldosteronism. Acta Paediatr. 1998, 87:472-474.
70. Martin J.M., Calduch L., Monteagudo C., Alonso V., Garcia L., Jorda E. Clinico-pathological analysis of the cutaneous lesions of a patient with type I pseudohypoaldosteronism. J. Eur. Acad. Dermatol. Venereol. 2005, 19:377-379.
71. Martinerie L., Pussard E., Foix-L'Helias L., Petit F., Cosson C., Boileau P., Lombes M. Physiological partial aldosterone resistance in human newborns. Pediatr. Res. 2009, 66:323-328.
72. Matalon S., O'Brodovich H. Sodium channels in alveolar epithelial cells: molecular characterization, biophysical properties, and physiological significance. Annu. Rev. Physiol. 1999, 61:627-661.
73. Mathew P.M., Manasra K.B., Hamdan J.A. Indomethacin and cation-exchange resin in the management of pseudohypoaldosteronism. Clin. Pediatr. (Phila.) 1993, 32:58-60.
74. McDonald F.J., Yang B., Hrstka R.F., Drummond H.A., Tarr D.E., McCray P.B., Stokes J.B., Welsh M.J., Williamson R.A. Disruption of the beta subunit of the epithelial Na+ channel in mice. Hyperkalemia and neonatal death associated with a pseudohypoaldosteronism phenotype. Proc. Natl. Acad. Sci. USA 1999, 96:1727-1731.
75. Meneton P., Loffing J., Warnock D.G. Sodium and potassium handling by the aldosterone-sensitive distal nephron: the pivotal role of the distal and connecting tubule. Am. J. Physiol. Renal Physiol. 2004, 287:F593-F5601.
76. Muhammad E., Leventhal N., Parvari G., Hanukoglu A., Hanukoglu I., Chalifa-Caspi V., Feinstein Y., Weinbrand J., Jacoby H., Manor E., Nagar T., Beck J.C., Sheffield V.C., Hershkovitz E., Parvari R. Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of carbonic anhydrase 12. Hum. Genet. 2011, 129:397-405.
77. New M.I. Inborn errors of adrenal steroidogenesis. Mol. Cell. Endocrinol. 2003, 211:75-83.
78. Oberfield S.E., Levine L.S., Carey R.M., Bejar R., New M.I. Pseudohypoaldosteronism: multiple target organ unresponsiveness to mineralocorticoid hormones. J. Clin. Endocrinol. Metab. 1979, 48:228-234.
79. Palmer L.G. Potassium secretion and the regulation of distal nephron K channels. Am. J. Physiol. 1999, 277:F821-F825.
80. Pascual-Le Tallec L., Lombes M. The mineralocorticoid receptor: a journey exploring its diversity and specificity of action. Mol. Endocrinol. 2005, 19:2211-2221.
81. Pujo L., Fagart J., Gary F., Papadimitriou D.T., Claes A., Jeunemaitre X., Zennaro M.C. Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. Hum. Mutat. 2007, 28:33-40.
82. Reilly R.F., Ellison D.H. Mammalian distal tubule: physiology, pathophysiology, and molecular anatomy. Physiol. Rev. 2000, 80:277-313.
83. Riepe F.G., Krone N., Morlot M., Ludwig M., Sippell W.G., Partsch C.J. Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity. J. Clin. Endocrinol. Metab. 2003, 88:1683-1686.
84. Riepe F.G., Finkeldei J., de Sanctis L., Einaudi S., Testa A., Karges B., Peter M., Viemann M., Grotzinger J., Sippell W.G., Fejes-Toth G., Krone N. Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. J. Clin. Endocrinol. Metab. 2006, 91:4552-4561.
85. Riepe F.G. Clinical and molecular features of type 1 pseudohypoaldosteronism. Horm. Res. 2009, 72:1-9.
86. Riepe F.G., van Bemmelen M.X., Cachat F., Plendl H., Gautschi I., Krone N., Holterhus P.M., Theintz G., Schild L. Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel. Clin. Endocrinol. (Oxf.) 2009, 70:252-258.
87. Ring A.M., Leng Q., Rinehart J., Wilson F.H., Kahle K.T., Hebert S.C., Lifton R.P. An SGK1 site in WNK4 regulates Na+ channel and K+ channel activity and has implications for aldosterone signaling and K+ homeostasis. Proc. Natl. Acad. Sci. USA 2007, 104:4025-4029.
88. Rodriguez-Soriano J., Vallo A., Oliveros R., Castillo G. Transient pseudohypoaldosteronism secondary to obstructive uropathy in infancy. J. Pediatr. 1983, 103:375-380.
89. Rodriguez-Soriano J., Ubetagoyena M., Vallo A. Transtubular potassium concentration gradient: a useful test to estimate renal aldosterone bio-activity in infants and children. Pediatr. Nephrol. 1990, 4:105-110.
90. Rogerson F.M., Fuller P.J. Interdomain interactions in the mineralocorticoid receptor. Mol. Cell. Endocrinol. 2003, 200:45-55.
91. Ronzaud C., Loffing J., Bleich M., Gretz N., Grone H.J., Schutz G., Berger S. Impairment of sodium balance in mice deficient in renal principal cell mineralocorticoid receptor. J. Am. Soc. Nephrol. 2007, 18:1679-1687.
92. Rubera I., Loffing J., Palmer L.G., Frindt G., Fowler-Jaeger N., Sauter D., Carroll T., McMahon A., Hummler E., Rossier B.C. Collecting duct-specific gene inactivation of alphaENaC in the mouse kidney does not impair sodium and potassium balance. J. Clin. Invest. 2003, 112:554-565.
93. Sartorato P., Lapeyraque A.L., Armanini D., Kuhnle U., Khaldi Y., Salomon R., Abadie V., Di Battista E., Naselli A., Racine A., Bosio M., Caprio M., Poulet-Young V., Chabrolle J.P., Niaudet P., De Gennes C., Lecornec M.H., Poisson E., Fusco A.M., Loli P., Lombes M., Zennaro M.C. Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. J. Clin. Endocrinol. Metab. 2003, 88:2508-2517.
94. Sartorato P., Cluzeaud F., Fagart J., Viengchareun S., Lombes M., Zennaro M.C., 2004a. New naturally occurring missense mutations of the human mineralocorticoid receptor disclose important residues involved in dynamic interactions with deoxyribonucleic Acid, intracellular trafficking, and ligand binding. Mol. Endocrinol. 18:2151-2165. Epub 2004 Jun 10.
95. Sartorato P., Khaldi Y., Lapeyraque A.L., Armanini D., Kuhnle U., Salomon R., Caprio M., Viengchareun S., Lombes M., Zennaro M.C. Inactivating mutations of the mineralocorticoid receptor in type I pseudohypoaldosteronism. Mol. Cell. Endocrinol. 2004, 217:119-125.
96. Savage M.O., Jefferson I.G., Dillon M.J., Milla P.J., Honour J.W., Grant D.B. Pseudohypoaldosteronism: severe salt wasting in infancy caused by generalized mineralocorticoid unresponsiveness. J. Pediatr. 1982, 101:239-242.
97. Saxena A., Hanukoglu I., Strautnieks S.S., Thompson R.J., Gardiner R.M., Hanukoglu A. Gene structure of the human amiloride-sensitive epithelial sodium channel beta subunit. Biochem. Biophys. Res. Commun. 1998, 252:208-213.
98. Saxena A., Hanukoglu I., Saxena D., Thompson R.J., Gardiner R.M., Hanukoglu A. Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes. J. Clin. Endocrinol. Metab. 2002, 87:3344-3350.
99. Schaedel C., Marthinsen L., Kristoffersson A.C., Kornfalt R., Nilsson K.O., Orlenius B., Holmberg L. Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel. J. Pediatr. 1999, 135:739-745.
100. Schild L., Lu Y., Gautschi I., Schneeberger E., Lifton R.P., Rossier B.C. Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome. Embo J. 1996, 15:2381-2387.
101. Schild L., Schneeberger E., Gautschi I., Firsov D. Identification of amino acid residues in the alpha, beta, and gamma subunits of the epithelial sodium channel (ENaC) involved in amiloride block and ion permeation. J. Gen. Physiol. 1997, 109:15-26.
102. Snyder P.M., McDonald F.J., Stokes J.B., Welsh M.J. Membrane topology of the amiloride-sensitive epithelial sodium channel. J. Biol. Chem. 1994, 269:24379-24383.
103. Soundararajan R., Zhang T.T., Wang J., Vandewalle A., Pearce D. A novel role for glucocorticoid-induced leucine zipper protein in epithelial sodium channel-mediated sodium transport. J. Biol. Chem. 2005, 280:39970-39981.
104. Speiser P.W., Stoner E., New M.I. Pseudohypoaldosteronism: a review and report of two new cases. Adv. Exp. Med. Biol. 1986, 196:173-195.
105. Staub O., Abriel H., Plant P., Ishikawa T., Kanelis V., Saleki R., Horisberger J.D., Schild L., Rotin D. Regulation of the epithelial Na+ channel by Nedd4 and ubiquitination. Kidney Int. 2000, 57:809-815.
106. Stockand J.D. New ideas about aldosterone signaling in epithelia. Am. J. Physiol. Renal Physiol. 2002, 282:F559-F576.
107. Strautnieks S.S., Thompson R.J., Gardiner R.M., Chung E. A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. Nat. Genet. 1996, 13:248-250.
108. Strautnieks S.S., Thompson R.J., Hanukoglu A., Dillon M.J., Hanukoglu I., Kuhnle U., Seckl J., Gardiner R.M., Chung E. Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping. Hum. Mol. Genet. 1996, 5:293-299.
109. Tchepichev S., Ueda J., Canessa C., Rossier B.C., O'Brodovich H. Lung epithelial Na channel subunits are differentially regulated during development and by steroids. Am. J. Physiol. 1995, 269:C805-C812.
110. Thomas C.P., Doggett N.A., Fisher R., Stokes J.B. Genomic organization and the 5' flanking region of the gamma subunit of the human amiloride-sensitive epithelial sodium channel. J. Biol. Chem. 1996, 271:26062-26066.
111. Thomas C.P., Zhou J., Liu K.Z., Mick V.E., MacLaughlin E., Knowles M. Systemic pseudohypoaldosteronism from deletion of the promoter region of the human Beta epithelial Na(+) channel subunit. Am. J. Respir. Cell. Mol. Biol. 2002, 27:314-319.
112. Ulick S., Wang J.Z., Morton D.H. The biochemical phenotypes of two inborn errors in the biosynthesis of aldosterone. J. Clin. Endocrinol. Metab. 1992, 74:1415-1420.
113. Vallon V., Wulff P., Huang D.Y., Loffing J., Volkl H., Kuhl D., Lang F. Role of Sgk1 in salt and potassium homeostasis. Am. J. Physiol. Regul. Integr. Comp. Physiol. 2005, 288:R4-R10.
114. Vantyghem M.C., Hober C., Evrard A., Ghulam A., Lescut D., Racadot A., Triboulet J.P., Armanini D., Lefebvre J. Transient pseudo-hypoaldosteronism following resection of the ileum: normal level of lymphocytic aldosterone receptors outside the acute phase. J. Endocrinol. Invest. 1999, 22:122-127.
115. Verrey F., Fakitsas P., Adam G., Staub O. Early transcriptional control of ENaC (de)ubiquitylation by aldosterone. Kidney Int 2008, 73:691-696.
116. Viengchareun S., Le Menuet D., Martinerie L., Munier M., Pascual-Le Tallec L., Lombes M., 2007. The mineralocorticoid receptor: insights into its molecular and (patho)physiological biology. Nucl. Recept. Signal 5:e012.
117. Wagner C.A., Kovacikova J., Stehberger P.A., Winter C., Benabbas C., Mohebbi N. Renal acid-base transport: old and new players. Nephron Physiol. 2006, 103:p1-p6.
118. Wang W.H., Yue P., Sun P., Lin D.H. Regulation and function of potassium channels in aldosterone-sensitive distal nephron. Curr. Opin. Nephrol. Hypertens. 2010, 19:463-470.
119. Watanabe T. Reversible secondary pseudohypoaldosteronism. Pediatr. Nephrol. 2003, 18:486.
120. +-ATPases in intercalated renal tubule cells by aldosterone. Proc. Natl. Acad. Sci. USA 2004, 101:2636-2641.
121. Wong G.P., Levine D. Congenital pseudohypoaldosteronism presenting in utero with acute polyhydramnios. J. Matern. Fetal Med. 1998, 7:76-78.
122. Yang J., Young M.J. The mineralocorticoid receptor and its coregulators. J. Mol. Endocrinol. 2009, 43:53-64.
123. Zennaro, M.C., Borensztein, P., Soubrier, F., Armanini, D., Corvol, P., 1992. Pseudohypoaldosteronism: a case survey and future directions, In: Brownie, A. C., Saez, J. M., Capponi, A., Chambaz, E. M., Mantero, F. (Eds.), Cellular and Molecular Biology of the Adrenal Cortex Colloque INSERM/John Libbey Eurotext Ltd., pp. 205-214.
124. Zennaro M.C., Borensztein P., Jeunemaitre X., Armanini D., Soubrier F. No alteration in the primary structure of the mineralocorticoid receptor in a family with pseudohypoaldosteronism. J. Clin. Endocrinol. Metab. 1994, 79:32-38.
125. Zennaro M.C., Keightley M.C., Kotelevtsev Y., Conway G.S., Soubrier F., Fuller P.J. Human mineralocorticoid receptor genomic structure and identification of expressed isoforms. J. Biol. Chem. 1995, 270:21016-21020.
126. Zennaro M.C., Le Menuet D., Lombes M. Characterization of the human mineralocorticoid receptor gene 5'-regulatory region: evidence for differential hormonal regulation of two alternative promoters via nonclassical mechanisms. Mol. Endocrinol. 1996, 10:1549-1560.
127. Zennaro M.C., Farman N., Bonvalet J.P., Lombes M. Tissue-specific expression of alpha and beta messenger ribonucleic acid isoforms of the human mineralocorticoid receptor in normal and pathological states. J. Clin. Endocrinol. Metab. 1997, 82:1345-1352.
128. Zennaro M.C., Souque A., Viengchareun S., Poisson E., Lombes M. A new human MR splice variant is a ligand-independent transactivator modulating corticosteroid action. Mol. Endocrinol. 2001, 15:1586-1598.
129. Zennaro M.C., Lombès M. Mineralocorticoid resistence. Trends Endocrinol. Metab. 2004, 15:264-270.
130. Zettle R.M., West M.L., Josse R.G., Richardson R.M., Marsden P.A., Halperin M.L. Renal potassium handling during states of low aldosterone bio-activity: a method to differentiate renal and non-renal causes. Am. J. Nephrol. 1987, 7:360-366.
131. Zhou M.Y., Gomez-Sanchez C.E., Gomez-Sanchez E.P. An alternatively spliced rat mineralocorticoid receptor mRNA causing truncation of the steroid binding domain. Mol. Cell. Endocrinol. 2000, 159:125-131.