先天性失氯性腹泻患儿3例的临床特征及遗传学分析  

Clinical characteristics and genetic analysis of three children with Congenital chlorine diarrhea

作　　者：尹辉[1] 陈晓波[1] 宋福英[1] 王慧[1] 杜牧[1] 钱晔[1] 黄书越 Yin Hui;Chen Xiaobo;Song Fuying;Wang Hui;Du Mu;Qian Ye;Huang Shuyue(Department of Endocrinology,the Affiliated Children's Hospital of Capital Pediatric Institute,Beijing 100020,China)

机构地区：[1]首都儿科研究所附属儿童医院内分泌科,北京100020

出　　处：《中华医学遗传学杂志》2023年第2期166-170,共5页Chinese Journal of Medical Genetics

基　　金：首都卫生发展科研专项项目(2018-1-2101)。

摘　　要：目的探讨3例先天性失氯性腹泻(CCD)患儿的临床特征及遗传学病因。方法选取2014年6月~2020年8月于首都儿科研究所附属儿童医院就诊的3例CCD患儿为研究对象。采集3例CCD患儿及其父母的外周血样, 进行基因检测, 并通过Sanger测序进行验证。结果 3例患儿均表现为出生后反复腹泻, 有不同程度的低氯血症、低钾血症及顽固性代谢性碱中毒。基因检测结果提示其分别携带SLC26A3基因c.1631T>A(p.I544N)纯合变异、c.2063-1G>T(剪接区域变异)及c.1039G>A(p.A347T)复合杂合变异、c.270271insAA(p.G91kfs*3)及c.2063-1G>T(剪接区域变异)复合杂合变异, Sanger测序证实上述变异均遗传自患儿父母。结论 SLC26A3基因的变异可能是这3例患儿的遗传学病因。上述发现拓展了SLC26A3基因的变异谱。Objective To explore the clinical characteristics and genetic basis for three children with Congenital chlorine diarrhea(CCD).MethodssThree children with CCD who attended the Affiliated Children's Hospital of Capital Pediatric Institute from June 2014 to August 2020 were selected as the research subjects.Peripheral blood samples of the three children and their parents were collected for genetic testing.And the results were verified by Sanger sequencing.Results The clinical manifestations of the three children have included recurrent diarrhea,with various degrees of hypochloremia,hypokalemia and refractory metabolic alkalosis.Genetic testing revealed that the three children have all carried variants of the SLC26A3 gene,including homozygous c.1631T>A(p.I544N)variants,c.2063-1G>T and c.1039G>A(p.A347T)compound heterozygous variants,and c.270_27linsAA(p.G91kfs*3)and c.2063-1G>T compound heterozygous variants.Sanger sequencing confirmed that the all of variants were inherited from their parents.Conclusion The variants of the SLC26A3 gene probably underlay the CCD in these children.Above finding has enriched the spectrum of SLC26A3 gene variants.

关 键 词：先天性失氯性腹泻 SLC26A3基因 低氯血症 低钾血症 代谢性碱中毒 

分 类 号：R725.9[医药卫生—儿科]