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Article

A Novel SCNN1A Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 1

Journal of clinical research in pediatric endocrinology - 7 Jun 2022

Huneif Mohammed Ayed, Alhazmy Ziyad Hamad, Shoomi Anas M., Alghofely Mohammed A., Heena Humariya, Mushiba Aziza M., AlSaheel Abdulhamid

Abstract excerpt

Pseudohypoaldosteronism type 1 (PHA1) is an autosomal-recessive disorder characterized by defective regulation of body sodium (Na) levels. The abnormality results from mutations in the genes encoding subunits of the epithelial Na channel. Patients with PHA1 present in infancy as being in adrenal crisis. A 41-day-old female who presented with recurrent adrenal crisis did not adequately respond to hydrocortisone...

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Identifiers

PMID: 33829730
DOI: 10.4274/jcrpe.galenos.2021.2020.0175
PMCID: PMC9176094

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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