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Article

A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene.

American journal of physiology. Endocrinology and metabolism - 1 Jul 2023

Efthymiadou Alexandra, Gautschi Ivan, van Bemmelen Miguel Xavier, Sertedaki Amalia, Giannakopoulos Aristeidis, Chrousos George, Schild Laurent, Chrysis Dionisios

Abstract excerpt

We investigate the genetic etiology in a cohort of patients with a clinical, biochemical, and hormonal profile suggestive of a mild and transient form of pseudohypoaldosteronism type 1 (PHA1). Twelve patients with PHA1 from four different families with clinical and biochemical data were analyzed. The coding regions of NR3C2 and SCNN1A genes were sequenced. Human α-epithelial sodium channel (ENaC) wild-type (wt),...

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Identifiers

PMID: 37134141
DOI: 10.1152/ajpendo.00332.2022

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