2例Gitelman综合征患儿携带SLC12A3基因突变分析及相关文献复习  

2 Case Reports and Literature Review of Gitelman Syndrome with SLC12A3 Gene Mutations

作　　者：胡国生[1] 李利 何一旻 丁宇[3] Huo Guosheng;LiLi;He Yiwen(Pediatrics,Fuyang People’s Hospital,Fuyang,Anhui,236000,China)

机构地区：[1]阜阳市人民医院儿科,安徽阜阳236000 [2]上海交通大学医学院附属儿童医学中心遗传分子诊断科,上海200127 [3]上海交通大学医学院附属儿童医学中心内分泌遗传代谢科,上海200127

出　　处：《黑龙江医学》2025年第6期720-723,727,共5页Heilongjiang Medical Journal

摘　　要：目的:分析2例Gitelman综合征(GS)患儿基因突变分析并对相关文献复习。方法:回顾性分析2021年5—8月阜阳市人民医院收治的2例GS男患儿的临床特点及治疗过程,抽提其基因组DNA,进行全外显子组基因测序。结果:2例患儿均表现为不同程度的低血钾及相应的临床表现,血钾最低分别为1.8 mmol/L和1.61 mmol/L,其中患儿2低血钾长达10年。患儿1经检测发现SLCl2A3基因杂合突变c.179C>T,突变来源于无症状的父亲;患儿2 SLCl2A3基因复合杂合突变c.1315G>A和c.1844C>T,突变分别来源于患儿的父母。其中,患儿2的复合杂合突变尚未见于我国GS的报道。结论:低钾血症是儿童GS重要特征,基因检测有助于该病的诊断。Objective:To analyze the clinical features and genetic mutations of 2 patients with Gitelman syndrome and review the related literature.Methods:The clinical characteristics and treatment process of 2 boys with Gitelman syndrome who were admitted to the hospital from May to August 2021 were retrospectively analyzed.DNA was extracted and whole-exome sequencing was performed.Results:2 patients presented with varying degrees of hypokalemia and corresponding clinical manifestations.Their lowest blood potassium was 1.8 mmol/L and 1.61 mmol/L,respectively.Hypokalemia of patient 2 had been for 10 years.The heterozygous mutation of SLCl2A3 for c.179C>T was found in patient 1,which inherited from his asymptomatic father.The compound heterozygous mutations of SLCl2A3 for c.1315G>A and c.1844C>T was found in patient 2,with 1 mutant inherited from his father and the other from his mother.This compound heterozygous mutation of patient 2 wasn’t reported in Gitelman syndrome in China.Conclusion:Hypokalemia is an important feature of Gitelman syndrome in children.Genetic testing is helpful for the diagnosis of Gitelman syndrome.

关 键 词：SLC12A3基因 GITELMAN综合征 儿童 

分 类 号：R394[医药卫生—医学遗传学]