儿童Gitelman综合征的SLC12A3基因复杂杂合突变  

The study of SLC12A3 complicated heterozygotic mutation in Children Gitelman syndrome

作　　者：高春林[1] 马上茹[1] 夏正坤[1] 高远赋[1] 樊忠民[1] 徐敏[1] 魏伟[1] 周昱[1] 莫桂玲[2] 

机构地区：[1]南京军区南京总医院儿科 [2]广州金域医学检验中心,广州510330

出　　处：《医学研究生学报》2015年第1期37-40,共4页Journal of Medical Postgraduates

基　　金：国家自然科学基金(81100592;81270800)

摘　　要：目的儿童Gitelman综合征(Gitelman Syndrome,GS)是一种由编码肾脏远曲小管钠-氯协同转运蛋白(Na-Cl cotransporter,NCCT)的SLC12A3基因突变引起的疾病。文中旨在探讨基因突变在鉴别诊断儿童GS中的意义。方法收集2例诊断为GS的儿童,采用一代测序法及多重连接探针扩增技术(multiplex ligation-dependent probe amplification,MPLA)对基因突变位点进行研究。结果 2例患儿基因检测发现1例男性患儿存在SLC12A3基因的复杂杂合突变即c.1964G>A,p.(Arg655His)联合8号外显子缺失突变;1例女性患儿存在SLC12A3基因的2个杂合突变即c.2543A>T,p.(Asp848Val)和c.976del G,p.(Val326fs)突变;其中8号外显子缺失突变和c.2543A>T,p.(Asp848Val)突变为发现的新突变位点。结论基因诊断是重要确诊手段,儿科医师需要提高认识,以防漏诊及误诊。Objective Gitelman Syndrome is a disease caused by the mutation of Na-Cl cotransporter gene（SLC12A3）.The article studied the significance of diagnosis and identification by genetic mutation. Methods We collected the clinical data, then we sequenced the SLC12A3 gene by the first sequencing technology and MLPA. Results SLC12A3 complicated heterozygotic mutation was observed.One of them showed c.1964G〉A, p.（Arg655His） and exon 8 deletion mutation, the other showed c.2543A〉T, p.（Asp848Val） and c.976delG, p.（Val326fs） mutation of SLC12A3 gene in children. Conclusion The final diagnosis depended on gene diagnosis. Pediatrician must recognize the manifestations to advoid misdiagnosis.

关 键 词：GITELMAN综合征 儿童 SLC12A3基因 

分 类 号：R692[医药卫生—泌尿科学]