Linchuang shenzangbing zazhi (Jan 2020)

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

Abstract

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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。

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