Gitelman综合征(Gitelman’s syndrome,GS)是一种以低钾性代谢性碱中毒、低血镁、低尿钙、正常或偏低血压、肾素-血管紧张素-醛固酮系统激活为临床表现的常染色体隐性遗传病,发病机制主要是位于染色体16q13的SLC12A3基因突变,导致该基因编码噻嗪类利尿剂敏感的Na-Cl转运体(sodium-chloride symporter,NCCT)功能失活。家族性 Gitelman’s syndrome (Gitelman’s syndrome, GS) is a common manifestation of hypokalemic metabolic alkalosis, hypomagnesemia, hypocalciuria, normal or low blood pressure, and renin-angiotensin-aldosterone system activation as a clinical manifestation Chromosomal recessive disease, the pathogenesis is mainly located on chromosome 16q13 SLC12A3 gene mutation, resulting in the gene encoding thiazide diuretic-sensitive Na-Cl transporter (sodium-chloride symporter, NCCT) inactivation. Familial