WEI Chaojun, LI Zhijing, SI Shengyong. Liddle syndrome with a sodium channel epithelial 1 subunit α (SCNN1A)gene mutation:a case reportJ. Chinese Journal of Hypertension. DOI: 10.16439/j.issn.1673-7245.2025-0236
Citation: WEI Chaojun, LI Zhijing, SI Shengyong. Liddle syndrome with a sodium channel epithelial 1 subunit α (SCNN1A)gene mutation:a case reportJ. Chinese Journal of Hypertension. DOI: 10.16439/j.issn.1673-7245.2025-0236

Liddle syndrome with a sodium channel epithelial 1 subunit α (SCNN1A)gene mutation:a case report

  • Mutations in the genes encoding the α,β, and γ subunits of the epithelial sodium channel in the nephron are the cause of Liddle syndrome. While existing literature extensively describes cases resulting from gene mutations in the β and γ subunits, reports on Liddle syndrome associated with mutations in the α subunit gene are relatively scarce. This article primarily reports a case of Liddle syndrome caused by a mutation in the α subunit gene, describing its clinical characteristics, treatment, and prognosis, aiming to provide practical insights for the clinical management of this condition.
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