目的 :分析1例Gitelman综合征患儿的临床表现及基因检测结果 ,以提高医师对Gitelman综合征的认识。方法:分析1例Gitelman综合征患儿的临床资料,行SLC12A3基因检测,并结合文献资料进行分析、诊断。结果:患儿表现为低钾性代谢性碱中毒、低镁血症、低钙尿症、高镁尿症,而其血清肾素和血管紧张素水平增高,但血压正常;检测到SLC12A3基因5个变异,但未检测到致病性突变。结论:应提高对Gitelman综合征的认识,以防漏、误诊。 Objective: To analyze the clinical manifestation and gene test results of 1 case of Gitelman syndrome in order to improve the doctor’s understanding of Gitelman’s syndrome. Methods: One case of Gitelman syndrome in children with clinical data, SLC12A3 gene detection, combined with the literature to analyze and diagnose. Results: Children with hypokalemic metabolic alkalosis, hypomagnesemia, hypocalciuria and hypermagnesemia had higher levels of serum renin and angiotensin, but blood pressure was normal. SLC12A3 gene 5 However, no pathogenic mutation was detected. Conclusion: The awareness of Gitelman syndrome should be improved to prevent leakage and misdiagnosis.