Molecular pathogenesis of renal pseudohypoaldosteronism type 1

References

• Fuller PJ, Young MJ. Mechanisms of mineralocorticoid action. Hypertension46, 1227–1235 (2005).
   PubMed Web of Science ®Google Scholar
• Pearce D, Bhargava A, Cole TJ. Aldosterone: its receptor, target genes, and actions. Vitam. Horm.66, 29–76 (2003).
   Google Scholar
• Ratajczak T, Ward BK, Minchin RF. Immunophilin chaperones in steroid receptor signaling. Curr. Top. Med. Chem.3, 1348–1357 (2003).
   PubMed Web of Science ®Google Scholar
• Hellal-Levy C, Fagart J, Souque A, Rafestin-Oblin ME. Mechanistic aspects of mineralocorticoid receptor activation. Kidney Int.57, 1250–1255 (2000).
   Google Scholar
• Couette B, Jalaguier S, Hellal-Levy C et al. Folding requirements of the ligand-binding domain of the human mineralocorticoid receptor. Mol. Endocrinol.12, 855–863 (1998).
   Google Scholar
• Lombes M, Binart N, Delahaye F, Baulieu EE, Rafestin-Oblin ME. Differential intracellular localization of human mineralocorticosteroid receptor on binding of agonists and antagonists. Biochem. J.302(Pt 1), 191–197 (1994).
   PubMedGoogle Scholar
• Fejes-Toth G, Pearce D, Naray-Fejes-Toth A. Subcellular localization of mineralocorticoid receptors in living cells: effects of receptor agonists and antagonists. Proc. Natl Acad. Sci. USA95, 2973–2978 (1998).
   PubMedGoogle Scholar
• Lombes M, Binart N, Oblin ME, Joulin V, Baulieu EE. Characterization of the interaction of the human mineralocorticosteroid receptor with hormone response elements. Biochem. J.292(Pt 2), 577–583 (1993).
   Google Scholar
• Liu W, Wang J, Sauter NK, Pearce D. Steroid receptor heterodimerization demonstrated in vitro and in vivo. Proc. Natl Acad. Sci. USA92, 12480–12484 (1995).
   PubMed Web of Science ®Google Scholar
• Robert-Nicoud M, Flahaut M, Elalouf JM et al. Transcriptome of a mouse kidney cortical collecting duct cell line: effects of aldosterone and vasopressin. Proc. Natl Acad. Sci. USA98, 2712–2716 (2001).
   PubMedGoogle Scholar
• Spindler B, Mastroberardino L, Custer M, Verrey F. Characterization of early aldosterone-induced RNAs identified in A6 kidney epithelia. Pflugers Arch.434, 323–331 (1997).
   Google Scholar
• Verrey F, Pearce D, Pfeiffer R et al. Pleiotropic action of aldosterone in epithelia mediated by transcription and post-transcription mechanisms. Kidney Int.57, 1277–1282 (2000).
   Google Scholar
• Pearce D. SGK1 regulation of epithelial sodium transport. Cell. Physiol. Biochem.13, 13–20 (2003).
   Google Scholar
• Chen SY, Bhargava A, Mastroberardino L et al. Epithelial sodium channel regulated by aldosterone-induced protein sgk. Proc. Natl Acad. Sci. USA96, 2514–2519 (1999).
   PubMed Web of Science ®Google Scholar
• Naray-Fejes-Toth A, Canessa C, Cleaveland ES, Aldrich G, Fejes-Toth G. Sgk is an aldosterone-induced kinase in the renal collecting duct. Effects on epithelial Na+ channels. J. Biol. Chem.274, 16973–16978 (1999).
   Google Scholar
• Webster MK, Goya L, Ge Y, Maiyar AC, Firestone GL. Characterization of sgk, a novel member of the serine/threonine protein kinase gene family which is transcriptionally induced by glucocorticoids and serum. Mol. Cell Biol.13, 2031–2040 (1993).
   PubMed Web of Science ®Google Scholar
• Spindler B, Verrey F. Aldosterone action: induction of p21(ras) and fra-2 and transcription-independent decrease in myc, jun, and fos. Am. J. Physiol.276, C1154–C1161 (1999).
   Google Scholar
• Mastroberardino L, Spindler B, Forster I et al. Ras pathway activates epithelial Na+ channel and decreases its surface expression in Xenopus oocytes. Mol. Biol. Cell9, 3417–3427 (1998).
   Google Scholar
• Bhalla V, Daidie D, Li H et al. Serum- and glucocorticoid-regulated kinase 1 regulates ubiquitin ligase neural precursor cell-expressed, developmentally down-regulated protein 4–2 by inducing interaction with 14–3-3. Mol. Endocrinol.19, 3073–3084 (2005).
   Google Scholar
• Snyder PM, Steines JC, Olson DR. Relative contribution of Nedd4 and Nedd4–2 to ENaC regulation in epithelia determined by RNA interference. J. Biol. Chem.279, 5042–5046 (2004).
   PubMedGoogle Scholar
• Zecevic M, Heitzmann D, Camargo SM, Verrey F. SGK1 increases Na,K-ATP cell-surface expression and function in Xenopus laevis oocytes. Pflugers Arch.448, 29–35 (2004).
   Google Scholar
• Rodriguez-Viciana P, Warne PH, Dhand R et al. Phosphatidylinositol-3-OH kinase as a direct target of Ras. Nature370, 527–532 (1994).
   PubMed Web of Science ®Google Scholar
• Park J, Leong ML, Buse P, Maiyar AC, Firestone GL, Hemmings BA. Serum and glucocorticoid-inducible kinase (SGK) is a target of the PI 3-kinase-stimulated signaling pathway. EMBO J.18, 3024–3033 (1999).
   PubMed Web of Science ®Google Scholar
• May A, Puoti A, Gaeggeler HP, Horisberger JD, Rossier BC. Early effect of aldosterone on the rate of synthesis of the epithelial sodium channel α subunit in A6 renal cells. J. Am. Soc. Nephrol.8, 1813–1822 (1997).
   PubMedGoogle Scholar
• Mick VE, Itani OA, Loftus RW, Husted RF, Schmidt TJ, Thomas CP. The α-subunit of the epithelial sodium channel is an aldosterone-induced transcript in mammalian collecting ducts, and this transcriptional response is mediated via distinct cis-elements in the 5´-flanking region of the gene. Mol. Endocrinol.15, 575–588 (2001).
   PubMedGoogle Scholar
• Weisz OA, Wang JM, Edinger RS, Johnson JP. Non-coordinate regulation of endogenous epithelial sodium channel (ENaC) subunit expression at the apical membrane of A6 cells in response to various transporting conditions. J. Biol. Chem.275, 39886–39893 (2000).
   Google Scholar
• Blot-Chabaud M, Djelidi S, Courtois-Coutry N et al. Coordinate control of Na,K-ATPase mRNA expression by aldosterone, vasopressin and cell sodium delivery in the cortical collecting duct. Cell. Mol. Biol. (Noisy-le-grand)47, 247–253 (2001).
   Google Scholar
• Kolla V, Litwack G. Transcriptional regulation of the human Na/K ATPase via the human mineralocorticoid receptor. Mol. Cell. Biochem.204, 35–40 (2000).
   PubMed Web of Science ®Google Scholar
• Lindzen M, Aizman R, Lifshitz Y, Lubarski I, Karlish SJ, Garty H. Structure–function relations of interactions between Na,K-ATPase, the γ subunit, and corticosteroid hormone-induced factor. J. Biol. Chem.278, 18738–18743 (2003).
   Google Scholar
• Yoo D, Kim BY, Campo C et al. Cell surface expression of the ROMK (Kir 1.1) channel is regulated by the aldosterone-induced kinase, SGK-1, and protein kinase A. J. Biol. Chem.278, 23066–23075 (2003).
   Google Scholar
• Arriza JL, Weinberger C, Cerelli G et al. Cloning of human mineralocorticoid receptor complementary DNA: structural and functional kinship with the glucocorticoid receptor. Science237, 268–275 (1987).
   PubMed Web of Science ®Google Scholar
• Zennaro MC, Keightley MC, Kotelevtsev Y, Conway GS, Soubrier F, Fuller PJ. Human mineralocorticoid receptor genomic structure and identification of expressed isoforms. J. Biol. Chem.270, 21016–21020 (1995).
   Google Scholar
• Zennaro MC, Farman N, Bonvalet JP, Lombes M. Tissue-specific expression of α and β messenger ribonucleic acid isoforms of the human mineralocorticoid receptor in normal and pathological states. J. Clin. Endocrinol. Metab.82, 1345–1352 (1997).
   Google Scholar
• Bloem LJ, Guo C, Pratt JH. Identification of a splice variant of the rat and human mineralocorticoid receptor genes. J. Steroid Biochem. Mol. Biol.55, 159–162 (1995).
   Google Scholar
• Zennaro MC, Souque A, Viengchareun S, Poisson E, Lombes M. A new human MR splice variant is a ligand-independent transactivator modulating corticosteroid action. Mol. Endocrinol.15, 1586–1598 (2001).
   PubMedGoogle Scholar
• Zennaro MC, 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.10, 1549–1560 (1996).
   Google Scholar
• Alnemri ES, Maksymowych AB, Robertson NM, Litwack G. Overexpression and characterization of the human mineralocorticoid receptor. J. Biol. Chem.266, 18072–18081 (1991).
   PubMed Web of Science ®Google Scholar
• Pascual-Le Tallec L, Lombes M. The mineralocorticoid receptor: a journey exploring its diversity and specificity of action. Mol. Endocrinol.19, 2211–2221 (2005).
   PubMedGoogle Scholar
• Seeler JS, Dejean A. Nuclear and unclear functions of SUMO. Nat. Rev. Mol. Cell Biol.4, 690–699 (2003).
   PubMed Web of Science ®Google Scholar
• Rogerson FM, Fuller PJ. Interdomain interactions in the mineralocorticoid receptor. Mol. Cell. Endocrinol.200, 45–55 (2003).
   PubMedGoogle Scholar
• Fagart J, Huyet J, Pinon GM, Rochel M, Mayer C, Rafestin-Oblin ME. Crystal structure of a mutant mineralocorticoid receptor responsible for hypertension. Nat. Struct. Mol. Biol.12, 554–555 (2005).
   PubMed Web of Science ®Google Scholar
• Bledsoe RK, Madauss KP, Holt JA et al. A ligand-mediated hydrogen bond network required for the activation of the mineralocorticoid receptor. J. Biol. Chem.280, 31283–31293 (2005).
   PubMed Web of Science ®Google Scholar
• Li Y, Suino K, Daugherty J, Xu HE. Structural and biochemical mechanisms for the specificity of hormone binding and coactivator assembly by mineralocorticoid receptor. Mol. Cell19, 367–380 (2005).
   PubMed Web of Science ®Google Scholar
• Kuhnle U. Pseudohypoaldosteronism: mutation found, problem solved? Mol. Cell. Endocrinol.133, 77–80 (1997).
   Google Scholar
• Cheek D, Perry J. A salt wasting syndrome in infancy. Arch. Dis. Child.33, 252–256 (1958).
   PubMed Web of Science ®Google Scholar
• Zennaro MC, Lombes M. Mineralocorticoid resistance. Trends Endocrinol. Metab.15, 264–270 (2004).
   PubMedGoogle Scholar
• Geller DS. Mineralocorticoid resistance. Clin. Endocrinol. (Oxf.)62, 513–520 (2005).
   Google Scholar
• Kerem E, Bistritzer T, Hanukoglu A et al. Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism. N. Engl. J. Med.341, 156–162 (1999).
   PubMed Web of Science ®Google Scholar
• Hanukoglu A, Bistritzer T, Rakover Y, Mandelberg A. Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis. J. Pediatr.125, 752–755 (1994).
   Google Scholar
• 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.87, 472–474 (1998).
   Google Scholar
• Schaedel C, Marthinsen L, Kristoffersson AC et al. Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the α-subunit of the epithelial sodium channel. J. Pediatr.135, 739–745 (1999).
   Google Scholar
• Hanaki K, Ohzeki T, Iitsuka T et al. An infant with pseudohypoaldosteronism accompanied by cholelithiasis. Biol. Neonate65, 85–88 (1994).
   Google Scholar
• Akkurt I, Kuhnle U, Ringenberg C. Pseudohypo-aldosteronism and cholelithiasis: coincidence or pathogenetic correlation? Eur. J. Pediatr.156, 363–366 (1997).
   Google Scholar
• Garty BZ. Chronic Pseudomonas colonization of the skin, ear and eyes in a child with type I pseudohypoaldosteronism. Acta Paediatr.88, 472–473 (1999).
   Google Scholar
• Aberer E, Gebhart W, Mainitz M, Pollak A, Reichel G, Scheibenreiter S. [Sweat glands in pseudohypoaldosteronism]. Hautarzt38, 484–487 (1987).
   PubMed Web of Science ®Google Scholar
• Akcakus M, Koklu E, Poyrazoglu H, Kurtoglu S. Newborn with pseudohypoaldosteronism and miliaria rubra. Int. J. Dermatol.45, 1432–1434 (2006).
   PubMed Web of Science ®Google Scholar
• Urbatsch A, Paller AS. Pustular miliaria rubra: a specific cutaneous finding of type I pseudohypoaldosteronism. Pediatr. Dermatol.19, 317–319 (2002).
   PubMed Web of Science ®Google Scholar
• Martin JM, 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.19, 377–379 (2005).
   PubMed Web of Science ®Google Scholar
• Wong GP, Levine D. Congenital pseudohypoaldosteronism presenting in utero with acute polyhydramnios. J. Matern. Fetal Med.7, 76–78 (1998).
   Google Scholar
• Greenberg D, Abramson O, Phillip M. Fetal pseudohypoaldosteronism: another cause of hydramnios. Acta Paediatr.84, 582–584 (1995).
   Google Scholar
• Abramson O, Zmora E, Mazor M, Shinwell ES. Pseudohypoaldosteronism in a preterm infant: intrauterine presentation as hydramnios. J. Pediatr.120, 129–132 (1992).
   Google Scholar
• Chang SS, 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, 248–253. (1996).
   PubMed Web of Science ®Google Scholar
• Oh YS, Warnock DG. Disorders of the epithelial Na+ channel in Liddle’s syndrome and autosomal recessive pseudohypoaldosteronism type 1. Exp. Nephrol.8, 320–325 (2000).
   Google Scholar
• 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. (Oxf.)62, 547–553 (2005).
   PubMed Web of Science ®Google Scholar
• Geller DS, Rodriguez-Soriano J, Vallo Boado A et al. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat. Genet.19, 279–281. (1998).
   PubMed Web of Science ®Google Scholar
• Kuhnle U, Nielsen MD, Tietze HU et al. Pseudohypoaldosteronism in eight families: different forms of inheritance are evidence for various genetic defects. J. Clin. Endocrinol. Metab.70, 638–641. (1990).
   Google Scholar
• Viemann M, Peter M, Lopez-Siguero JP, Simic-Schleicher G, Sippell WG. Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds. J. Clin. Endocrinol. Metab.86, 2056–2059. (2001).
   Google Scholar
• Riepe FG, Finkeldei J, de Sanctis L et al. Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. J. Clin. Endocrinol. Metab.91(11), 4552–4561 (2006).
   PubMed Web of Science ®Google Scholar
• Geller DS, Zhang J, Zennaro MC et al. Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. J. Am. Soc. Nephrol.17, 1429–1436 (2006).
   Google Scholar
• Sartorato P, Khaldi Y, Lapeyraque AL et al. Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism. Mol. Cell. Endocrinol.217, 119–125 (2004).
   Google Scholar
• Fernandes-Rosa FL, de Castro M, Latronico AC, Sippell W, Riepe FG, Antonini SR. 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.91(9), 3671–3675 (2006).
   Google Scholar
• Riepe FG, Krone N, Morlot M, Peter M, Sippell WG, Partsch CJ. Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene. J. Clin. Endocrinol. Metab.89, 2150–2152 (2004).
   Google Scholar
• Gordon RD. Syndrome of hypertension and hyperkalemia with normal glomerular filtration rate. Hypertension8, 93–102 (1986).
   PubMed Web of Science ®Google Scholar
• Achard JM, Disse-Nicodeme S, Fiquet-Kempf B, Jeunemaitre X. Phenotypic and genetic heterogeneity of familial hyperkalaemic hypertension (Gordon syndrome). Clin. Exp. Pharmacol. Physiol.28, 1048–1052 (2001).
   Google Scholar
• Disse-Nicodeme S, Achard JM, 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, 302–310 (2000).
   Google Scholar
• Mansfield TA, Simon DB, Farfel Z et al. Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31–42 and 17p11–q21. Nat. Genet.16, 202–205 (1997).
   PubMed Web of Science ®Google Scholar
• Wilson FH, Disse-Nicodeme S, Choate KA et al. Human hypertension caused by mutations in WNK kinases. Science293, 1107–1112. (2001).
   PubMed Web of Science ®Google Scholar
• Kahle KT, Wilson FH, Lalioti M, Toka H, Qin H, Lifton RP. WNK kinases: molecular regulators of integrated epithelial ion transport. Curr. Opin. Nephrol. Hypertens.13, 557–562 (2004).
   Google Scholar
• Kahle KT, Wilson FH, Lifton RP. Regulation of diverse ion transport pathways by WNK4 kinase: a novel molecular switch. Trends Endocrinol. Metab.16, 98–103 (2005).
   Google Scholar
• Xie J, Craig L, Cobb MH, Huang CL. Role of with-no-lysine [K] kinases in the pathogenesis of Gordon’s syndrome. Pediatr. Nephrol.21, 1231–1236 (2006).
   Google Scholar
• Subramanya AR, Yang CL, McCormick JA, Ellison DH. WNK kinases regulate sodium chloride and potassium transport by the aldosterone-sensitive distal nephron. Kidney Int.70, 630–634 (2006).
   PubMed Web of Science ®Google Scholar
• 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.11, 277–279 (2001).
   Google Scholar
• Maruyama K, Watanabe H, Onigata K. Reversible secondary pseudohypoaldosteronism due to pyelonephritis. Pediatr. Nephrol.17, 1069–1070 (2002).
   Google Scholar
• Dolezel Z, Starha J, Novotna D, Dostalkova D. Secondary pseudohypoaldosteronism in an infant with pyelonephritis. Bratisl. Lek. Listy.105, 435–437 (2004).
   Google Scholar
• Perez-Brayfield MR, Gatti J, Smith E, Kirsch AJ. Pseudohypoaldosteronism associated with ureterocele and upper pole moiety obstruction. Urology57, 1178 (2001).
   Google Scholar
• Ladefoged K, Olgaard K. Sodium homeostasis after small-bowel resection. Scand. J. Gastroenterol.20, 361–369 (1985).
   PubMed Web of Science ®Google Scholar
• Vantyghem MC, Hober C, Evrard A et al. Transient pseudo-hypoaldosteronism following resection of the ileum: normal level of lymphocytic aldosterone receptors outside the acute phase. J. Endocrinol. Invest.22, 122–127 (1999).
   PubMed Web of Science ®Google Scholar
• Anand SK, Froberg L, Northway JD, Weinberger M, Wright JC. Pseudohypoaldosteronism due to sweat gland dysfunction. Pediatr. Res.10, 677–682 (1976).
   PubMed Web of Science ®Google Scholar
• Berger S, Bleich M, Schmid W et al. Mineralocorticoid receptor knockout mice: pathophysiology of Na+ metabolism. Proc. Natl Acad. Sci. USA95, 9424–9429 (1998).
   PubMedGoogle Scholar
• Arai K, Nakagomi Y, Iketani M et al. Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism. Hum. Genet.112, 91–97 (2003).
   Google Scholar
• Balsamo A, Cicognani A, Gennari M et al. Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1. Eur. J. Endocrinol.156(2), 249–256. (2007).
   Google Scholar
• Arai K, Zachman K, Shibasaki T, Chrousos GP. Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential? J. Clin. Endocrinol. Metab.84, 2434–2437. (1999).
   Google Scholar
• Sartorato P, Lapeyraque AL, Armanini D et al. Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. J. Clin. Endocrinol. Metab.88, 2508–2517 (2003).
   Google Scholar
• Pujo L, Fagart J, Gary F et al. Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. Hum. Mutat.28, 33–40 (2007).
   PubMed Web of Science ®Google Scholar
• Tajima T, Kitagawa H, Yokoya S et al. A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1. J. Clin. Endocrinol. Metab.85, 4690–4694. (2000).
   Google Scholar
• Ozisik G, Mantovani G, Achermann JC et al. An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita. J. Clin. Endocrinol. Metab.88, 417–423 (2003).
   Google Scholar
• Ludwig M, Bolkenius U, Wickert L, Bidlingmaier F. Common polymorphisms in genes encoding the human mineralocorticoid receptor and the human amiloride-sensitive sodium channel. J. Steroid Biochem. Mol. Biol.64, 227–230 (1998).
   Google Scholar
• Riepe FG, Holterhus PM. Exclusion of serum- and glucocorticoid-induced kinase 1 (SGK1) as a candidate gene for genetically heterogeneous renal pseudohypoaldosteronism type I in eight families. Am. J. Nephrol.27, 164–169 (2007).
   Google Scholar
• Ludwig M, Bidlingmaier F, Reissinger A. Pseudohypoaldosteronism type 1 and the genes encoding prostasin, α-spectrin, and Nedd4. Int. J. Mol. Med.14, 1101–1104 (2004).
   Google Scholar
• Huey CL, Riepe FG, Sippell WG, Yu AS. Genetic heterogeneity in autosomal dominant pseudohypoaldosteronism type I: exclusion of claudin-8 as a candidate gene. Am. J. Nephrol.24, 483–487 (2004).
   Google Scholar
• Riepe FG, Krone N, Morlot M, Ludwig M, Sippell WG, Partsch CJ. 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.88, 1683–1686 (2003).
   Google Scholar
• Wulff P, Vallon V, Huang DY et al. Impaired renal Na(+) retention in the sgk1-knockout mouse. J. Clin. Invest.110, 1263–1268 (2002).
   PubMed Web of Science ®Google Scholar
• Tsukita S, Furuse M. Pores in the wall: claudins constitute tight junction strands containing aqueous pores. J. Cell Biol.149, 13–16 (2000).
   PubMed Web of Science ®Google Scholar
• Li WY, Huey CL, Yu AS. Expression of claudin-7 and -8 along the mouse nephron. Am. J. Physiol. Renal Physiol.286, F1063–F1071 (2004).
   PubMed Web of Science ®Google Scholar
• Goldschimdt I, Grahammer F, Warth R et al. Kidney and colon electrolyte transport in CHIF knockout mice. Cell. Physiol. Biochem.14, 113–120 (2004).
   Google Scholar
• Rocha R, Stier CT Jr, Kifor I et al. Aldosterone: a mediator of myocardial necrosis and renal arteriopathy. Endocrinology141, 3871–3878 (2000).
   PubMed Web of Science ®Google Scholar
• Nystrom AM, Bondeson ML, Skanke N et al. A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1). J. Clin. Endocrinol. Metab.89, 227–231 (2004).
   Google Scholar