Gitelman综合征的临诊应对

Gitelman综合征是常染色体隐性遗传,由于钠-氯转运体缺陷导致的肾小管疾病。临床上血压正常或偏低,实验室检查提示低血钾、低血镁、碱中毒、低尿钙及肾素-血管紧张素-醛固酮系统激活。发病病因与溶质载体家族12成员3(SLC12A3)基因和肾小管基底膜氯离子通道(CLCNKB)基因突变有关。Gitelman综合征相对罕见,临床医师若对该病认识不足,易造成漏诊、误诊。本文报道一例经基因突变检测确诊的Gitelman综合征,旨在提高对该病的认识和诊疗水平。

Approach to the patients with Gitelman syndrome

Gitelman syndrome (GS) is an autosomal recessive Na-C1 cotransporter deficient renal tubulopathy that is characterized by hypokalemia,hypomagnesemia,metabolic alkalosis and secondary aldosteronism,which is without hypertension.In the great majority of cases GS is caused by mutations in SLC12A3 gene and CLCNKB gene.As GS is relatively rare,it is easily missed diagnosed or misdiagnosis.This paper reports a case of GS which was definitely diagnosed by gene sequence,in order to improve diagnosis and treatment level.