摘要
目的探讨先天性簇绒肠病的临床诊治特点。方法回顾分析2016年7月收治的1例先天性簇绒肠病患儿的临床资料。以"先天性簇绒肠病"、"EPCAM"、"congenital tufting enteropathy"为检索词,分别检索2017年10月以前的万方数据库、CNKI、Pub Med数据库中的相关文献,并进行复习。结果患儿,女,2岁2个月,生后不久开始出现顽固性慢性腹泻,伴生长受限、反复感染、贫血等。基因检测发现EPCAM基因纯合突变,c.412C>T(exon3),致氨基酸变异p.R138X,诊断为EPCAM基因突变致先天性簇绒肠病。共检索到EPCAM基因突变致先天性簇绒肠病文献14篇,均为国外文献。60例患儿,共报道34种EPCAM基因突变,其中11种位于exon 3。结论先天性肠病相当罕见,婴幼儿期出现的慢性顽固性腹泻伴生长发育迟缓需高度警惕先天性簇绒肠病可能性。
Objective To explore the clinical characteristics of diagnosis and treatment in patients with congenital tufting enteropathy. Methods A rare case of congenital tufting enteropathy was diagnosed at West China Second University Hospital, Sichuan University in July 2016, Clinical data of congenital tufting enteropathy was retrospectively analyzed, and related literature were reviewed. Original papers on congenital tufting enteropathy published until Oct.2017 were retrieved at Pub Med, CNKI databases and Wangfan databases by the use of the key words ＂ EPCAM ＂, ＂ congenital tufting enteropathy＂. Results A 2-year and 2-month old girl began to develop intractable chronic diarrhea soon after birth, accompanied with growth restriction, repeated infections, anemia and so on. Next-generation DNA sequencing revealed a homozygous C〉A substitution at exon 3 in EPCAM of the affected patient（c.412 C〉T, p. R138 X）, and she was finally diagnosed as congenital tufting enteropathy. A total of 60 cases of congenital tufting enteropathy caused by EPCAM gene mutation were found in 14 papers, all of which were published abroad, and 34 EPCAM gene mutations were reported, 11 of them were located in exon 3. Conclusions Congenital tufting enteropathy is rare and difficult to diagnosis. Chronic intractable diarrhea associated with growth retardation in infants should be highly alert to the possibility of congenital tufting enteropathy.
作者
袁传杰
黄倬
孙小妹
刘颖
吴瑾
YUAN Chuanjie;HUANG Zhuo;SUN Xiaomei;LIU Ying;WU Jing(Department of Pediatrics,West China Second Hospital,Sichuan Universily.Key Laboratory of Birth Defects and RelatedDiseases of Women and Children,Chengdu 610041,Sichuan,China)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2018年第8期618-620,共3页
Journal of Clinical Pediatrics
