目的 探讨Gitelman综合征的基因诊断。方法 回顾性分析1例Gitelman综合征患儿的临床资料，及患儿 与其父母、姐姐的基因分析结果。结果 患儿，男， 6岁。因发热、低血钾入院。经检测发现SLC12A3基因位点EXON21 c.2522A>G p.(Asp841Gly)杂合宽度和EXON16 c.1946C>T p.(Thr649Met)杂合突变，确诊为Gitelman综合征。患儿母亲 携带EXON21 c.2522A>G p.(Asp841Gly)杂合，患儿父亲和姐姐携带EXON16 c.1946C>T p.(Thr649Met)杂合突变。结 论 SLC12A3基因检测有助于Gitelman综合征诊断，新发现SLC12A3基因突变丰富了Gitelman综合征基因突变谱。

 Objective To explore the gene diagnosis of Gitelman syndrome. Methods The clinical data of a child with Gitelman syndrome were retrospectively analyzed along with gene detection results of his elder sister and parents. Results A 6-year-old boy was hospitalized for fever and hypokalemia. Gene detection of SLC12A found a new locus mutation of EXON21 c.2522A>G p.(Asp841Gly) and a heterozygosis of EXON16 c.1946C>T p.(Thr649Met). The diagnosis of Gitelman syndrome was confirmed. His mother carried a heterozygosis mutation of EXON21 c.2522A>G p.(Asp841Gly), while his father and elder sister carried a heterozygosis mutation of EXON16 c.1946C>T p.(Thr649Met). Conclusion Gene detection of SLC12A is helpful in the diagnosis of Gitelman syndrome. The newly discovered mutation of SLC12A3 gene has enriched the mutation spectrum of Gitelman syndrome.