pseudohypoaldosteronism

Summary

Summary: A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congenital forms are rare autosomal disorders characterized by neonatal hypertension, HYPERKALEMIA, increased RENIN activity and ALDOSTERONE concentration. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION.

Top Publications

  1. Schweiger B, Moriarty M, Cadnapaphornchai M. Case report: severe neonatal hyperkalemia due to pseudohypoaldosteronism type 1. Curr Opin Pediatr. 2009;21:269-71 pubmed publisher
    ..We report a newborn with severe hyperkalemia and hyponatremia from autosomal recessive pseudohypoaldosteronism type 1 requiring aggressive therapy...
  2. Golbang A, Murthy M, Hamad A, Liu C, Cope G, Van t Hoff W, et al. A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D>H) in the acidic motif of the WNK4 gene. Hypertension. 2005;46:295-300 pubmed
    We identified a new kindred with the familial syndrome of hypertension and hyperkalemia (pseudohypoaldosteronism type II or Gordon's syndrome) containing an affected father and son...
  3. Ahlstrom R, Yu A. Characterization of the kinase activity of a WNK4 protein complex. Am J Physiol Renal Physiol. 2009;297:F685-92 pubmed publisher
    Mutations in WNK4 protein kinase cause pseudohypoaldosteronism type II (PHAII), a genetic disorder that is characterized by renal NaCl and K(+) retention leading to hypertension and hyperkalemia...
  4. Oh Y, Warnock D. Disorders of the epithelial Na(+) channel in Liddle's syndrome and autosomal recessive pseudohypoaldosteronism type 1. Exp Nephrol. 2000;8:320-5 pubmed
    ..of ENaC gene mutations in two distinct human diseases, Liddle's syndrome and autosomal recessive pseudohypoaldosteronism type 1 (PHA-1), has been demonstrated...
  5. Arai K, Zachman K, Shibasaki T, Chrousos G. Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential?. J Clin Endocrinol Metab. 1999;84:2434-7 pubmed
    b>Pseudohypoaldosteronism (PHA) is characterized by congenital resistance of the kidney and/or other mineralocorticoid target tissues to aldosterone, resulting in excessive salt wasting...
  6. Riepe F. Pseudohypoaldosteronism. Endocr Dev. 2013;24:86-95 pubmed publisher
    b>Pseudohypoaldosteronism (PHA) is a rare syndrome of mineralocorticoid resistance. PHA type 1 (PHA1) can be divided into two different forms, showing either a systemic or a renal form of mineralocorticoid resistance...
  7. Ohta A, Schumacher F, Mehellou Y, Johnson C, Knebel A, MacArtney T, et al. The CUL3-KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction. Biochem J. 2013;451:111-22 pubmed publisher
    ..The present study reveals how mutations that disrupt the ability of an E3 ligase to interact with and ubiquitylate a critical cellular substrate such as WNK isoforms can trigger a chronic disease such as hypertension...
  8. Sartorato P, Khaldi Y, Lapeyraque A, Armanini D, Kuhnle U, Salomon R, et al. Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism. Mol Cell Endocrinol. 2004;217:119-25 pubmed
    Type I pseudohypoaldosteronism (PHA1) is a rare form of mineralocorticoid resistance characterized by neonatal renal salt wasting and failure to thrive...
  9. Viemann M, Peter M, López Siguero J, Simic Schleicher G, Sippell W. 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. 2001;86:2056-9 pubmed
    b>Pseudohypoaldosteronism type 1 (PHA1) is characterized by neonatal salt wasting resistant to mineralocorticoids...

More Information

Publications62

  1. Guran T, Değirmenci S, Bulut I, Say A, Riepe F, Guran O. Critical points in the management of pseudohypoaldosteronism type 1. J Clin Res Pediatr Endocrinol. 2011;3:98-100 pubmed publisher
    b>Pseudohypoaldosteronism type 1 (PHA-1, MIM #264350) is caused by defective transepithelial sodium transport...
  2. Furgeson S, Linas S. Mechanisms of type I and type II pseudohypoaldosteronism. J Am Soc Nephrol. 2010;21:1842-5 pubmed publisher
    b>Pseudohypoaldosteronism (PHA) types I and II are curious genetic disorders that share hyperkalemia as a predominant finding. Together they have become windows to understanding new molecular physiology in the kidney...
  3. Kamide K, Takiuchi S, Tanaka C, Miwa Y, Yoshii M, Horio T, et al. Three novel missense mutations of WNK4, a kinase mutated in inherited hypertension, in Japanese hypertensives: implication of clinical phenotypes. Am J Hypertens. 2004;17:446-9 pubmed
    ..kinase WNK4 with no lysine (K) at a key catalytic residue cause familial hypertension known as pseudohypoaldosteronism type II (PHAII)...
  4. Nyström A, Bondeson M, Skanke N, Martensson J, Stromberg B, Gustafsson J, et al. A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1). J Clin Endocrinol Metab. 2004;89:227-31 pubmed
    b>Pseudohypoaldosteronism type I (PHA1) is a condition associated with salt wasting leading to dehydration, hypotension, hyperkalemia, and metabolic acidosis...
  5. Arai K, Nakagomi Y, Iketani M, Shimura Y, Amemiya S, Ohyama K, et al. Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism. Hum Genet. 2003;112:91-7 pubmed
    b>Pseudohypoaldosteronism (PHA) is characterized by urinary salt-wasting in infancy resulting from a congenital resistance to aldosterone involving the genes for the mineralocorticoid receptor (MR) and the amiloride-sensitive sodium ..
  6. Strautnieks S, Thompson R, Gardiner R, 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;13:248-50 pubmed
    b>Pseudohypoaldosteronism type 1 (PHA1, OMIM 264350) is an uncommon inherited disorder characterized by salt-wasting and end-organ unresponsiveness to mineralocorticoids...
  7. Geller D, Rodriguez Soriano J, Vallo Boado A, Schifter S, Bayer M, Chang S, et al. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet. 1998;19:279-81 pubmed
    b>Pseudohypoaldosteronism type I (PHA1) is characterized by neonatal renal salt wasting with dehydration, hypotension, hyperkalaemia and metabolic acidosis, despite elevated aldosterone levels. Two forms of PHA1 exist...
  8. Riepe F, Finkeldei J, de Sanctis L, Einaudi S, Testa A, Karges B, et al. Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. J Clin Endocrinol Metab. 2006;91:4552-61 pubmed
    b>Pseudohypoaldosteronism type 1 (PHA1) is a rare salt-wasting syndrome. Mutations in the NR3C2 gene coding for the mineralocorticoid receptor (MR) cause autosomal dominant PHA1.
  9. Ring A, Cheng S, Leng Q, Kahle K, Rinehart J, Lalioti M, et al. WNK4 regulates activity of the epithelial Na+ channel in vitro and in vivo. Proc Natl Acad Sci U S A. 2007;104:4020-4 pubmed
    ..Previous work has shown that mutations in WNK4 cause pseudohypoaldosteronism type II (PHAII), a disease featuring hypertension with hyperkalemia, due to altered activity of specific ..
  10. Osawa M, Ogura Y, Isobe K, Uchida S, Nonoyama S, Kawaguchi H. CUL3 gene analysis enables early intervention for pediatric pseudohypoaldosteronism type II in infancy. Pediatr Nephrol. 2013;28:1881-4 pubmed publisher
    Four genes responsible for pseudohypoaldosteronism type II (PHA-II) have been identified, thereby facilitating molecular diagnostic testing.
  11. Urbatsch A, Paller A. Pustular miliaria rubra: a specific cutaneous finding of type I pseudohypoaldosteronism. Pediatr Dermatol. 2002;19:317-9 pubmed
    Type I pseudohypoaldosteronism, an autosomal recessive, life-threatening disorder of mineralocorticoid resistance leads to excessive loss of sodium chloride through eccrine and other secretions...
  12. Ohta A, Rai T, Yui N, Chiga M, Yang S, Lin S, et al. Targeted disruption of the Wnk4 gene decreases phosphorylation of Na-Cl cotransporter, increases Na excretion and lowers blood pressure. Hum Mol Genet. 2009;18:3978-86 pubmed publisher
    We recently generated Wnk4(D561A/+) knockin mice and found that a major pathogenesis of pseudohypoaldosteronism type II was the activation of the OSR1/SPAK kinase-NaCl cotransporter (NCC) phosphorylation cascade by the mutant WNK4...
  13. Boyden L, Choi M, Choate K, Nelson Williams C, Farhi A, Toka H, et al. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature. 2012;482:98-102 pubmed publisher
    ..b>Pseudohypoaldosteronism type II (PHAII), a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis, ..
  14. Rogers D. Final diagnosis: transient pseudohypoaldosteronism (TPH) caused by UTI without concordant obstructive uropathy. Clin Pediatr (Phila). 2008;47:405-8 pubmed
  15. Pujo L, Fagart J, Gary F, Papadimitriou D, Claës A, Jeunemaitre X, et al. Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. Hum Mutat. 2007;28:33-40 pubmed
    Aldosterone plays a key role in electrolyte balance and blood pressure regulation. Type 1 pseudohypoaldosteronism (PHA1) is a primary form of mineralocorticoid resistance characterized in the newborn by salt wasting, hyperkalemia, and ..
  16. Tsuji S, Yamashita M, Unishi G, Takewa R, Kimata T, Isobe K, et al. A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3. BMC Nephrol. 2013;14:166 pubmed publisher
    b>Pseudohypoaldosteronism type II (PHA II), also referred to as Gordon syndrome, is a rare renal tubular disease that is inherited in an autosomal manner...
  17. Mastrandrea L, Martin D, Springate J. Clinical and biochemical similarities between reflux/obstructive uropathy and salt-wasting congenital adrenal hyperplasia. Clin Pediatr (Phila). 2005;44:809-12 pubmed
  18. Wakabayashi M, Mori T, Isobe K, Sohara E, Susa K, Araki Y, et al. Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertension. Cell Rep. 2013;3:858-68 pubmed publisher
    Mutations in WNK kinases cause the human hypertensive disease pseudohypoaldosteronism type II (PHAII), but the regulatory mechanisms of the WNK kinases are not well understood...
  19. Edelheit O, Hanukoglu I, Gizewska M, Kandemir N, Tenenbaum Rakover Y, Yurdakok M, et al. Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism. Clin Endocrinol (Oxf). 2005;62:547-53 pubmed
    Multisystem pseudohypoaldosteronism (PHA) is a rare autosomal recessive aldosterone unresponsiveness syndrome that results from mutations in the genes encoding epithelial sodium channel (ENaC) subunits alpha, beta and gamma...
  20. Xu B, Stippec S, Chu P, Lazrak A, Li X, Lee B, et al. WNK1 activates SGK1 to regulate the epithelial sodium channel. Proc Natl Acad Sci U S A. 2005;102:10315-20 pubmed
    ..Intronic deletions increase the expression of WNK1 in humans and cause pseudohypoaldosteronism type II, a form of hypertension...
  21. Hummler E, Barker P, Talbot C, Wang Q, Verdumo C, Grubb B, et al. A mouse model for the renal salt-wasting syndrome pseudohypoaldosteronism. Proc Natl Acad Sci U S A. 1997;94:11710-5 pubmed
    ..In human, autosomal recessive mutations of alpha, beta, or gammaENaC subunits cause pseudohypoaldosteronism type 1 (PHA-1), a renal salt-wasting syndrome characterized by severe hypovolemia, high plasma ..
  22. Schoen E, Bhatia S, Ray G, Clapp W, To T. Transient pseudohypoaldosteronism with hyponatremia-hyperkalemia in infant urinary tract infection. J Urol. 2002;167:680-2 pubmed
    We describe an uncircumcised male infant and a female neonate treated for infant urinary tract infection who had multiple hormonal and electrolyte abnormalities consistent with the diagnosis of transient pseudohypoaldosteronism.
  23. Liu Z, Xie J, Wu T, Truong T, Auchus R, Huang C. Downregulation of NCC and NKCC2 cotransporters by kidney-specific WNK1 revealed by gene disruption and transgenic mouse models. Hum Mol Genet. 2011;20:855-66 pubmed publisher
    ..is a protein kinase of which mutations cause a familial hypertension and hyperkalemia syndrome known as pseudohypoaldosteronism type 2 (PHA2)...
  24. Manikam L, Cornes M, Kalra D, Ford C, Gama R. Transient pseudohypoaldosteronism masquerading as congenital adrenal hyperplasia. Ann Clin Biochem. 2011;48:380-2 pubmed publisher
    ..abnormalities who presented with profound hyponatraemia and hyperkalaemia due to transient type 1 pseudohypoaldosteronism (PHA) precipitated by a urinary tract infection (UTI), which responded rapidly to intravenous saline and ..
  25. Disse Nicodeme S, Desitter I, Fiquet Kempf B, Houot A, Stern N, Delahousse M, et al. Genetic heterogeneity of familial hyperkalaemic hypertension. J Hypertens. 2001;19:1957-64 pubmed
    ..To date, three different loci have been identified, on chromosomes 1, 17 and 12...
  26. Hubert E, Teissier R, Fernandes Rosa F, Fay M, Rafestin Oblin M, Jeunemaitre X, et al. Mineralocorticoid receptor mutations and a severe recessive pseudohypoaldosteronism type 1. J Am Soc Nephrol. 2011;22:1997-2003 pubmed publisher
    b>Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease of mineralocorticoid resistance characterized by salt wasting and failure to thrive in infancy...
  27. Louis Dit Picard H, Barc J, Trujillano D, Miserey Lenkei S, Bouatia Naji N, Pylypenko O, et al. KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron. Nat Genet. 2012;44:456-60, S1-3 pubmed publisher
    ..Our study establishes a role for KLHL3 as a new member of the complex signaling pathway regulating ion homeostasis in the distal nephron and indirectly blood pressure...
  28. Disse Nicodeme S, Achard J, Desitter I, Houot A, Fournier A, Corvol P, et al. A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. Am J Hum Genet. 2000;67:302-10 pubmed
    b>Pseudohypoaldosteronism type II (PHA2) is a rare autosomal dominant form of volume-dependent low-renin hypertension characterized by hyperkalemia and hyperchloremic acidosis but also by a normal glomerular filtration rate...
  29. Proctor G, Linas S. Type 2 pseudohypoaldosteronism: new insights into renal potassium, sodium, and chloride handling. Am J Kidney Dis. 2006;48:674-93 pubmed
  30. Schaedel C, Marthinsen L, Kristoffersson A, Kornfält R, Nilsson K, Orlenius B, et al. Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel. J Pediatr. 1999;135:739-45 pubmed
    To study patients with autosomal recessive pseudohypoaldosteronism type 1 and to relate pulmonary disease to gene mutations of the epithelial sodium channel (ENaC).
  31. Tajima T, Kitagawa H, Yokoya S, Tachibana K, Adachi M, Nakae J, 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. 2000;85:4690-4 pubmed
    b>Pseudohypoaldosteronism type 1 (PHA1) is a rare condition characterized by neonatal salt loss with dehydration, hypotension, hyperkalemia, and metabolic acidosis, despite elevated plasma aldosterone levels and PRA...
  32. Balsamo A, Cicognani A, Gennari M, Sippell W, Menabò S, Baronio F, et al. Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1. Eur J Endocrinol. 2007;156:249-56 pubmed
    The renal form of pseudohypoaldosteronism type 1 (PHA1) is a rare disease caused by mutations in the human mineralocorticoid receptor gene (NR3C2).
  33. Wilson F, Disse Nicodeme S, Choate K, Ishikawa K, Nelson Williams C, Desitter I, et al. Human hypertension caused by mutations in WNK kinases. Science. 2001;293:1107-12 pubmed
    ..Hypertension is a major public health problem of largely unknown cause. Here, we identify two genes causing pseudohypoaldosteronism type II, a Mendelian trait featuring hypertension, increased renal salt reabsorption, and impaired K+ and ..
  34. Bonny O, Knoers N, Monnens L, Rossier B. A novel mutation of the epithelial Na+ channel causes type 1 pseudohypoaldosteronism. Pediatr Nephrol. 2002;17:804-8 pubmed
    Type I pseudohypoaldosteronism (PHA-1) is a rare salt wasting syndrome occurring soon after birth, characterized by apathy and severe dehydration accompanied by hyponatremia, hyperkalemia, and metabolic acidosis despite high plasma ..
  35. Dirlewanger M, Huser D, Zennaro M, Girardin E, Schild L, Schwitzgebel V. A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1. Am J Physiol Endocrinol Metab. 2011;301:E467-73 pubmed publisher
    b>Pseudohypoaldosteronism type 1 (PHA1) is a monogenic disorder of mineralocorticoid resistance characterized by salt wasting, hyperkalemia, high aldosterone levels, and failure to thrive...
  36. Lalioti M, Zhang J, Volkman H, Kahle K, Hoffmann K, Toka H, et al. Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule. Nat Genet. 2006;38:1124-32 pubmed
    ..Mutations in the gene encoding the kinase WNK4 cause pseudohypoaldosteronism type II (PHAII), a syndrome featuring hypertension and hyperkalemia...
  37. Akin L, Kurtoglu S, Kendirci M, Akin M, Hartmann M, Wudy S. Hook effect: a pitfall leading to misdiagnosis of hypoaldosteronism in an infant with pseudohypoaldosteronism. Horm Res Paediatr. 2010;74:72-5 pubmed publisher
    ..Thus, aldosterone synthase deficiency was excluded and pseudohypoaldosteronism (PHA) was suggested...
  38. Geller D, Zhang J, Zennaro M, Vallo Boado A, Rodriguez Soriano J, Furu L, et al. Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. J Am Soc Nephrol. 2006;17:1429-36 pubmed
    Autosomal dominant pseudohypoaldosteronism type 1 (adPHA1) is a rare condition that is characterized by renal resistance to aldosterone, with salt wasting, hyperkalemia, and metabolic acidosis...
  39. Grunder S, Firsov D, Chang S, Jaeger N, Gautschi I, Schild L, et al. A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel. EMBO J. 1997;16:899-907 pubmed
    b>Pseudohypoaldosteronism type 1 (PHA-1) is an inherited disease characterized by severe neonatal salt-wasting and caused by mutations in subunits of the amiloride-sensitive epithelial sodium channel (ENaC)...
  40. Yang S, Hsu Y, Chiga M, Rai T, Sasaki S, Uchida S, et al. Mechanisms for hypercalciuria in pseudohypoaldosteronism type II-causing WNK4 knock-in mice. Endocrinology. 2010;151:1829-36 pubmed publisher
    The mechanisms underlying hypercalciuria in pseudohypoaldosteronism type II (PHAII) caused by WNK4 mutations remain unclear...
  41. Zhang C, Wang Z, Xie J, Yan F, Wang W, Feng X, et al. Identification of a novel WNK4 mutation in Chinese patients with pseudohypoaldosteronism type II. Nephron Physiol. 2011;118:p53-61 pubmed publisher
    It has been reported that mutations in WNK1 and WNK4 cause pseudohypoaldosteronism type II (PHA2), an autosomal dominant renal disease...
  42. Naito S, Ohta A, Sohara E, Ohta E, Rai T, Sasaki S, et al. Regulation of WNK1 kinase by extracellular potassium. Clin Exp Nephrol. 2011;15:195-202 pubmed publisher
    Mutations of WNK kinase genes were identified as the cause of a hereditary hypertensive disease, pseudohypoaldosteronism type II; however, little is known about the regulation of WNK kinases...
  43. Thomas C, Zhou J, Liu K, Mick V, 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;27:314-9 pubmed
    Systemic pseudohypoaldosteronism type I (PHAI) is an autosomal recessive disorder that arises from loss of function mutations of the alpha, beta, or gamma subunit of Epithelial Na(+) Channel (ENaC)...
  44. Riepe F. Clinical and molecular features of type 1 pseudohypoaldosteronism. Horm Res. 2009;72:1-9 pubmed publisher
    b>Pseudohypoaldosteronism (PHA) is a rare heterogeneous syndrome of mineralocorticoid resistance causing insufficient potassium and hydrogen secretion...
  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;111:268-74 pubmed publisher
    Multi-system pseudohypoaldosteronism (PHA) is a rare syndrome of aldosterone unresponsiveness characterized by symptoms of severe salt-losing caused by mutations in one of the genes that encode alpha, beta or gamma subunit of epithelial ..
  46. Maruyama K, Watanabe H, Onigata K. Reversible secondary pseudohypoaldosteronism due to pyelonephritis. Pediatr Nephrol. 2002;17:1069-70 pubmed
    ..An endocrinological evaluation led to a diagnosis of pseudohypoaldosteronism. The patient had phimosis, but no congenital urinary tract malformations...
  47. Watanabe T. Reversible secondary pseudohypoaldosteronism. Pediatr Nephrol. 2003;18:486 pubmed
  48. Sartorato P, Lapeyraque A, Armanini D, Kuhnle U, Khaldi Y, Salomon R, et al. Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. J Clin Endocrinol Metab. 2003;88:2508-17 pubmed
    ..the human mineralocorticoid receptor (hMR) gene in 14 families with autosomal dominant or sporadic pseudohypoaldosteronism (PHA1), a rare form of mineralocorticoid resistance characterized by neonatal renal salt wasting and ..
  49. Uchida N, Shiohara M, Miyagawa S, Yokota I, Mori T. A novel nonsense mutation of the mineralocorticoid receptor gene in the renal form of pseudohypoaldosteronism type 1. J Pediatr Endocrinol Metab. 2009;22:91-5 pubmed
    b>Pseudohypoaldosteronism type 1 (PHA1) is a rare congenital disease characterized by salt loss resistant to mineralocorticoids. Most patients are identified by failure to thrive or poor weight gain in early infancy...
  50. Belot A, Ranchin B, Fichtner C, Pujo L, Rossier B, Liutkus A, et al. Pseudohypoaldosteronisms, report on a 10-patient series. Nephrol Dial Transplant. 2008;23:1636-41 pubmed publisher
    Type 1 pseudohypoaldosteronism (PHA1) is a salt-wasting syndrome caused by mineralocorticoid resistance...
  51. Shibata S, Zhang J, Puthumana J, Stone K, Lifton R. Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4. Proc Natl Acad Sci U S A. 2013;110:7838-43 pubmed publisher
    b>Pseudohypoaldosteronism type II (PHAII) is a rare Mendelian syndrome featuring hypertension and hyperkalemia resulting from constitutive renal salt reabsorption and impaired K(+) secretion...
  52. Kahle K, Wilson F, Leng Q, Lalioti M, O Connell A, Dong K, et al. WNK4 regulates the balance between renal NaCl reabsorption and K+ secretion. Nat Genet. 2003;35:372-6 pubmed
    ..WNK4 in this process; clustered mutations in PRKWNK4, encoding WNK4, cause hypertension and hyperkalemia (pseudohypoaldosteronism type II, PHAII) by altering renal NaCl and K+ handling...
  53. Kuhnle U, Nielsen M, Tietze H, Schroeter C, Schlamp D, Bosson D, et al. Pseudohypoaldosteronism in eight families: different forms of inheritance are evidence for various genetic defects. J Clin Endocrinol Metab. 1990;70:638-41 pubmed
    b>Pseudohypoaldosteronism is a rare hereditary disorder presenting in early infancy with renal salt loss leading to hyponatremia and hyperkalemia despite high levels of plasma aldosterone...