上皮钠通道1β 亚单位(SCNN1B)基因突变致Liddle综合征1例并文献复习

A case report and literature review of Liddle syndrome caused by sodium channel epithelial 1 subunit β (SCNN1B) gene mutation

  • 摘要: Liddle综合征是一种罕见的常染色体显性、单基因遗传性疾病,典型症状包括早发高血压、低钾血症、代谢性碱中毒、低醛固酮、低肾素以及对盐皮质激素受体拮抗剂无反应。本文报道1例14岁青少年男性患者,早发严重高血压伴靶器官损害,低血钾、低肾素,基因检测结果提示上皮钠通道1β亚单位(SCNN1B)基因有2个位点发生错义突变,确诊为Liddle综合征。

     

    Abstract: Liddle syndrome is a rare autosomal dominant monogenic hereditary disease, clinically characterized by early-onset hypertension, hypokalemia, metabolic alkalosis, hypoaldosteronism, hyporeninemia and non-responsiveness to mineralocorticoid receptor antagonists. This paper reports a case of a 14-year-old adolescent male patient presenting with early-onset severe hypertension complicated with target organ damage, accompanied by hypokalemia and hyporeninemia. Genetic testing results indicated two missense mutations in the sodium channel epithelial 1 subunit β (SCNN1B) gene, confirming the diagnosis of Liddle syndrome.

     

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