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Severe Salt–Losing Syndrome and Hyperkalemia Induced by Adult Nephron–Specific Knockout of the Epithelial Sodium Channel α-Subunit

Systemic pseudohypoaldosteronism type 1 (PHA-1) is a severe salt–losing syndrome caused by loss-of-function mutations of the amiloride–sensitive epithelial sodium channel (ENaC) and characterized by neonatal life–threatening hypovolemia and hyperkalemia. The very high plasma aldosterone levels detec...

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Dades bibliogràfiques
Publicat a:J Am Soc Nephrol
Autors principals: Perrier, Romain, Boscardin, Emilie, Malsure, Sumedha, Sergi, Chloé, Maillard, Marc P., Loffing, Johannes, Loffing-Cueni, Dominique, Sørensen, Mads Vaarby, Koesters, Robert, Rossier, Bernard C., Frateschi, Simona, Hummler, Edith
Format: Artigo
Idioma:Inglês
Publicat: American Society of Nephrology 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4978035/
https://ncbi.nlm.nih.gov/pubmed/26701978
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2015020154
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