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Article

A novel splice site mutation of the beta subunit gene of epithelial sodium channel (ENaC) in one Turkish patient with a systemic form of pseudohypoaldosteronism Type 1.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2012

Dogan Cagla Serpil, Erdem Durmaz, Mesut Parlak, Merve Akan, Sema Akcurin, Iffet Bircan, Afig Berdeli

Abstract excerpt

BACKGROUND/AIMS: Pseudohypoaldosteronism Type 1 (PHA1) is a rare heterogeneous syndrome characterized by severe salt loss, hyperkalemia, hyponatremia, metabolic acidosis, hyperaldosteronism and hyperreninemia. Multi-system form of PHA1 is caused by mutations in one of the genes encoding the α, β and γ subunits of epithelial sodium channels (ENaC). In this study, we presented a novel splice site mutation in the...

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PMID: 23426840
DOI: 10.1515/jpem-2012-0083

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Source receipt: pubmed, retrieved 7 Sept 2026.

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