上皮钠通道α亚单位基因突变型Liddle综合征1例

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

摘要

肾小管上皮钠离子通道α亚单位、β亚单位及γ亚单位基因突变是Liddle综合征发生的病因，目前较多文献描述β亚单位及γ亚单位基因突变所致的Liddle综合征，而对α亚单位基因突变相关Liddle综合征的相关描述较少，本文主要报道1例α亚单位基因突变导致的Liddle综合征患者，描述α亚单位基因突变导致的Liddle综合征的临床特点、治疗和预后情况，为Liddle综合征的临床实践提供一定经验。

Abstract

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.

关键词

Liddle综合征 / 低血钾 / 高血压 / 上皮钠通道α亚单位基因突变

Key words

Liddle syndrome / hypokalemia / hypertension / sodium channel epithelial 1 subunit α gene mutation

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