第七届北京罕见病学术大会暨2019京津冀罕见病学术大会征文（6）

天津医科大学总医院儿科

王雨婷，刘  朔，王  茜，吴楚姗，冯  唯，郑荣秀

【摘要】

目的  探讨儿童Gitelman综合征的临床特点及基因分型。

方法  回顾性分析2018年2月至2018年4月收治的2例儿童Gitelman综合征患儿的临床资料。

结果  2例患儿均存在代谢性酸中毒、低血钾、低尿钙及正常血压，但肾素醛固酮水平呈现不同程度的升高。行基因检测证实2例患儿及家属均发现SLC12A3基因突变，其中有一新发突变。

结论  对于发现血钾低的患儿均应高度警惕此病，对患儿及其家属进行基因检测可明确诊断。

【关键词】 Gitelman综合征；SLC12A3基因；基因突变；儿童

Clinical features and gene analysis of two cases of Gitelman Syndrome in children

Abstract: Objective To study clinical characteristics and genotype of Gitelman Syndrome. Methods Retrospective analysis of the clinical data from two cases of Gitelman Syndrome that are admitted from February 2018 to April 2018. Results Both two patients all had metabolic alkalosis， hypokalemia，hypocalciuria，normal bloodpressure and the renin-angiotensin-aldosterone level increased to different extent，SLC12A3 gene mutations are confirmed in both patients and their family members，including one novel mutation. Conclusions Children with hypopotassemia should be highly alert to Gitelman Syndrome.Gene detection for children and their family members is helpful for diagnosis.

Keywords：Gitelman Syndrome;SLC12A3 gene;gene mutation;children