A case of hypokalemia misdiagnosed as Gitelman syndrome and literature review - HUANG Jie-li; CUI Chun-li; ZHANG Kun; LIU Xi; YU Ying; YUAN Ai-hong; YU Chen (Linchuang shenzangbing zazhi)
<正>Gitleman综合征(Gitelman syndrome,GS)是一种常染色体隐性遗传病,以低钾血症、代谢性碱中毒、低镁血症、低钙尿症和低血压为特征,出现于儿童晚期或成年期,伴有虚弱、嗜睡、心脑血管痉挛,1966年由Gitelman首次报道[1]。它是由SLC12A3基因突变引起的,该基因编码肾远端小管中对噻嗪类药物敏感的Na/Cl协同转运蛋白(Na-Cl cotransporter,NCCT)[2]。本文报告1例28岁女性患者,其临床表现低钾、低氯血症合并代谢性碱中毒,与Gitleman综合征相符。