Gitelman syndrome caused by a rare homozygous mutation in the SLC12A3 gene:A case report

• 作 者: Ri-Zhen Yu Mao-Sheng Chen
• 机 构: DepartmentofNephrologyDivision
• 出 处: 世界临床病例杂志
• 发表日期: 2020年18期
• 关键词: Gitelman syndrome HYPOKALEMIA SLC12A3 HOMOZYGOUS Rare mutation Case report
• 基金项目: Supported by the National Natural Science Foundation of China,No.81700649.

BACKGROUND Gitelman syndrome(GS)is an unusual,autosomal recessive salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis,hypomagnesemia and hypocalciuria.It is caused by mutations in the solute carrier family 12 member 3(SLC12A3)gene res