综合报道

SLC12A3 基因新突变致Gitelman 综合征一家系报告

  • 肖继红 ,
  • 杨阳
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  • 厦门大学附属第一医院儿科 福建医科大学教学医院(福建厦门 361003)

收稿日期: 2017-01-15

  网络出版日期: 2017-01-15

Gitelman syndrome caused by SLC12A3 gene mutations: a report of pedigree analysis

  • XIAO Jihong ,
  • YANG Yang
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  • The First Affiliated Hospital of Xiamen University, Xiamen 361003, Fujian , China

Received date: 2017-01-15

  Online published: 2017-01-15

摘要

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。

本文引用格式

肖继红 , 杨阳 . SLC12A3 基因新突变致Gitelman 综合征一家系报告[J]. 临床儿科杂志, 2017 , 35(1) : 33 . DOI: 10.3969/j.issn.1000-3606.2017.01.009

Abstract

 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.
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