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Liddle Syndrome with a SCNN1A Mutation: A Case Report and Literature Review.

Kidney & blood pressure research - 1 Jan 2024

Tian Jiajia, Xiang Fei, Wang Liandi, Wu Xueyi, Shao Lijuan, Ma Li, Fang Chuwen

Abstract excerpt

INTRODUCTION: Liddle syndrome is an autosomal dominant monogenic disease that mainly manifests as early-onset hypertension, hypokalaemia and metabolic alkalosis, as well as hyporeninaemia and hypoaldosteronism. The aetiology of Liddle syndrome is missense or frameshift mutations in the SCNN1A, SCNN1B, or SCNN1G genes, which encode for the epithelial sodium channel subunits. Among these, mutations in the SCNN1A...

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PMID: 39236685
DOI: 10.1159/000540522

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