儿童Gitelman综合征3例临床特点及基因分析

发布时间：2018-05-01 15:07

本文选题：Gitelman综合征 + SLClA基因　；参考：《临床儿科杂志》2017年12期

【摘要】：目的探讨儿童Gitelman综合征的临床及基因突变特点。方法回顾分析3例Gitelman综合征患儿的临床资料。结果 3例患儿均为男性,年龄分别为3、8、10岁。临床表现为低钾血症、低镁血症、碱中毒、高肾素血症、高醛固酮血症。基因检测显示存在SLC12A3基因的复合杂合突变,共发现SLC12A3基因的5个突变位点:c.179CT(Thr60Met)、c.248 GA(Arg 83 Gln)、c.2129 CA(Ser 710 X)、c.2660+1 GA、c.1456 GA(Asp 486 Asn)。患儿确诊后,经补钾、补镁、螺内酯治疗后病情好转。结论儿童出现低钾血症需注意Gitelman综合征,基因检测有助于明确诊断。
[Abstract]:Objective to investigate the clinical and gene mutation characteristics of Gitelman syndrome in children. Methods the clinical data of 3 children with Gitelman syndrome were analyzed retrospectively. Results all the 3 cases were male, their ages were 3 or 8 years old. The clinical manifestations were hypokalemia, hypomagnesemia, alkalosis, hyperreninemia and hyperaldosteronemia. Gene analysis showed that there was a complex heterozygosity mutation of SLC12A3 gene. Five SLC12A3 gene mutations, 1: c. 179CTT, Thr60 Meta, 248 GA(Arg 83 Glnnberg, c. 2129 CA(Ser 710 XT, c. 2660 1, gastrin c. 1456 GA(Asp 486 Asnn, were found. After the diagnosis, the children improved after the treatment of potassium, magnesium and spironolactone. Conclusion attention should be paid to Gitelman syndrome in children with hypokalemia.
【作者单位】：广州妇女儿童医疗中心遗传与内分泌科;
【基金】：广州市医药卫生科技一般引导项目(No.20141A011028)
【分类号】：R725.9

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