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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
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Disease relevance of Pseudohypoaldosteronism


High impact information on Pseudohypoaldosteronism


Chemical compound and disease context of Pseudohypoaldosteronism


Biological context of Pseudohypoaldosteronism


Anatomical context of Pseudohypoaldosteronism

  • In this study, we investigated nongenomic aldosterone action in five patients with pseudohypoaldosteronism with regard to a rapid increase of free intracellular calcium [Ca2+]i in cultured nasal epithelial cells, assumably reflecting calcium influx through calcium channels [21].
  • Finally, functional hypermineralocorticism was associated with reduced expression of hMR beta in sweat glands of two patients affected by Conn's and Liddle's syndrome, whereas normal levels of hMR isoforms were found in one case of pseudohypoaldosteronism [22].
  • The affinity and the capacity of mineralocorticoid receptors (MR) in human mononuclear leukocytes (HML) were determined in 9 patients with Conn's syndrome (PA) and in 3 patients with pseudohypoaldosteronism (PHA) [23].
  • The membrane-bound Na,K ATPase activity and the transmembrane Na and K transport systems have been studied in vitro in red blood cells of two subjects, son and mother, affected by pseudohypoaldosteronism with different degrees of clinical involvement [24].

Gene context of Pseudohypoaldosteronism


  1. Paracellular Cl- permeability is regulated by WNK4 kinase: insight into normal physiology and hypertension. Kahle, K.T., Macgregor, G.G., Wilson, F.H., Van Hoek, A.N., Brown, D., Ardito, T., Kashgarian, M., Giebisch, G., Hebert, S.C., Boulpaep, E.L., Lifton, R.P. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  2. Disease-causing mutant WNK4 increases paracellular chloride permeability and phosphorylates claudins. Yamauchi, K., Rai, T., Kobayashi, K., Sohara, E., Suzuki, T., Itoh, T., Suda, S., Hayama, A., Sasaki, S., Uchida, S. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  3. Salt restriction induces pseudohypoaldosteronism type 1 in mice expressing low levels of the beta-subunit of the amiloride-sensitive epithelial sodium channel. Pradervand, S., Barker, P.M., Wang, Q., Ernst, S.A., Beermann, F., Grubb, B.R., Burnier, M., Schmidt, A., Bindels, R.J., Gatzy, J.T., Rossier, B.C., Hummler, E. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  4. The natural history of salt-wasting disorders of adrenal and renal origin. Rösler, A. J. Clin. Endocrinol. Metab. (1984) [Pubmed]
  5. Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. 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., Lombès, M., Zennaro, M.C. J. Clin. Endocrinol. Metab. (2003) [Pubmed]
  6. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Geller, D.S., Rodriguez-Soriano, J., Vallo Boado, A., Schifter, S., Bayer, M., Chang, S.S., Lifton, R.P. Nat. Genet. (1998) [Pubmed]
  7. Increased chloride reabsorption as an inherited renal tubular defect in familial type II pseudohypoaldosteronism. Take, C., Ikeda, K., Kurasawa, T., Kurokawa, K. N. Engl. J. Med. (1991) [Pubmed]
  8. Aldosterone-receptor deficiency in pseudohypoaldosteronism. Armanini, D., Kuhnle, U., Strasser, T., Dorr, H., Butenandt, I., Weber, P.C., Stockigt, J.R., Pearce, P., Funder, J.W. N. Engl. J. Med. (1985) [Pubmed]
  9. A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel. Gründer, S., Firsov, D., Chang, S.S., Jaeger, N.F., Gautschi, I., Schild, L., Lifton, R.P., Rossier, B.C. EMBO J. (1997) [Pubmed]
  10. The kidney-specific WNK1 isoform is induced by aldosterone and stimulates epithelial sodium channel-mediated Na+ transport. Náray-Fejes-Tóth, A., Snyder, P.M., Fejes-Tóth, G. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  11. WNK4 regulates apical and basolateral Cl- flux in extrarenal epithelia. Kahle, K.T., Gimenez, I., Hassan, H., Wilson, F.H., Wong, R.D., Forbush, B., Aronson, P.S., Lifton, R.P. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  12. Mutational analysis of cysteine-rich domains of the epithelium sodium channel (ENaC). Identification of cysteines essential for channel expression at the cell surface. Firsov, D., Robert-Nicoud, M., Gruender, S., Schild, L., Rossier, B.C. J. Biol. Chem. (1999) [Pubmed]
  13. Hyponatremia due to cerebral salt-wasting syndrome. Combined cerebral and distal tubular lesion. Al-Mufti, H., Arieff, A.I. Am. J. Med. (1984) [Pubmed]
  14. Compensatory up-regulation of angiotensin II subtype 1 receptors in alpha ENaC knockout heterozygous mice. Wang, Q., Hummler, E., Maillard, M., Nussberger, J., Rossier, B.C., Brunner, H.R., Burnier, M. Kidney Int. (2001) [Pubmed]
  15. Nephrocalcinosis in pseudohypoaldosteronism and the effect of indomethacin therapy. Shalev, H., Ohali, M., Abramson, O. J. Pediatr. (1994) [Pubmed]
  16. Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis. Chung, E., Hanukoglu, A., Rees, M., Thompson, R., Dillon, M., Hanukoglu, I., Bistritzer, T., Kuhnle, U., Seckl, J., Gardiner, R.M. J. Clin. Endocrinol. Metab. (1995) [Pubmed]
  17. A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1. Tajima, T., Kitagawa, H., Yokoya, S., Tachibana, K., Adachi, M., Nakae, J., Suwa, S., Katoh, S., Fujieda, K. J. Clin. Endocrinol. Metab. (2000) [Pubmed]
  18. Hyper- and hypoaldosteronism. Torpy, D.J., Stratakis, C.A., Chrousos, G.P. Vitam. Horm. (1999) [Pubmed]
  19. No alteration in the primary structure of the mineralocorticoid receptor in a family with pseudohypoaldosteronism. Zennaro, M.C., Borensztein, P., Jeunemaitre, X., Armanini, D., Soubrier, F. J. Clin. Endocrinol. Metab. (1994) [Pubmed]
  20. Systemic pseudohypoaldosteronism from deletion of the promoter region of the human Beta epithelial na(+) channel subunit. Thomas, C.P., Zhou, J., Liu, K.Z., Mick, V.E., MacLaughlin, E., Knowles, M. Am. J. Respir. Cell Mol. Biol. (2002) [Pubmed]
  21. Impaired rapid mineralocorticoid action on free intracellular calcium in pseudohypoaldosteronism. Gamarra, F., Simic-Schleicher, G., Huber, R.M., Ulsenheimer, A., Scriba, P.C., Kuhnle, U., Wehling, M. J. Clin. Endocrinol. Metab. (1997) [Pubmed]
  22. Tissue-specific expression of alpha and beta messenger ribonucleic acid isoforms of the human mineralocorticoid receptor in normal and pathological states. Zennaro, M.C., Farman, N., Bonvalet, J.P., Lombès, M. J. Clin. Endocrinol. Metab. (1997) [Pubmed]
  23. The determination of mineralocorticoid receptors in human mononuclear leukocytes from patients with mineralocorticoid excess: physiological and pathological implications. Armanini, D., Kuhnle, U., Witzgall, H., Tietze, U., Saule, H., Schroeter, C., Strasser, T., Butenandt, I., Bidlingmaier, F., Weber, P.C. Clinical and experimental hypertension. Part A, Theory and practice. (1986) [Pubmed]
  24. Erythrocyte transmembrane Na and K fluxes in pseudohypoaldosteronism. Cugini, P., Natoli, G., Gerlini, G., Di Palma, L., Rota, R., D'Onofrio, M., Verna, R. Biochem. Med. Metab. Biol. (1992) [Pubmed]
  25. WNK1 regulates phosphorylation of cation-chloride-coupled cotransporters via the STE20-related kinases, SPAK and OSR1. Moriguchi, T., Urushiyama, S., Hisamoto, N., Iemura, S., Uchida, S., Natsume, T., Matsumoto, K., Shibuya, H. J. Biol. Chem. (2005) [Pubmed]
  26. Properties of WNK1 and implications for other family members. Lenertz, L.Y., Lee, B.H., Min, X., Xu, B.E., Wedin, K., Earnest, S., Goldsmith, E.J., Cobb, M.H. J. Biol. Chem. (2005) [Pubmed]
  27. Conserved synteny in rat and mouse for a blood pressure QTL on human chromosome 17. Zimdahl, H., Kreitler, T., Gösele, C., Ganten, D., Hübner, N. Hypertension (2002) [Pubmed]
  28. Mineralocorticoid receptor knockout mice: pathophysiology of Na+ metabolism. Berger, S., Bleich, M., Schmid, W., Cole, T.J., Peters, J., Watanabe, H., Kriz, W., Warth, R., Greger, R., Schütz, G. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  29. Normal CFTR Activity and Reversed Skin Potentials in Pseudohypoaldosteronism. Reddy, M.M., Wang, X.F., Gottschalk, M., Jones, K., Quinton, P.M. J. Membr. Biol. (2005) [Pubmed]
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