New mutation in EPCAM for congenital tufting enteropathy:A case report  

作　　者：Yan-Qiong Zhou Guo-Sheng Wu Yuan-Mei Kong Xiao-Yuan Zhang Chun-Lin Wang 

机构地区：[1]Department of Pediatrics,The First Affiliated Hospital,Zhejiang University School of Medicine,Hangzhou 310003,Zhejiang Province,China [2]Department of Colorectal and Anal Surgery,The First Affiliated Hospital,Zhejiang University School of Medicine,Hangzhou 310003,Zhejiang Province,China

出　　处：《World Journal of Clinical Cases》2020年第20期4975-4980,共6页世界临床病例杂志

基　　金：Key Research and Development Program of Zhejiang Province,China,No.2020C03121。

摘　　要：BACKGROUND Congenital tufting enteropathy(CTE)is a rare cause of diarrhea in children.However,it can result in early-onset of chronic diarrhea and failure to thrive.Children with this disease have to depend on total parenteral nutrition(TPN),and eventually small intestine transplantation.The epithelial cell adhesion molecule(EPCAM)gene was identified to be associated with CTE.Here,we present a case of an infant with CTE due to a mutation not reported in the literature before.CASE SUMMARY A 1-year and 7-mo infant boy exhibited intractable watery diarrhea and mushy stool within 1 wk after birth,for which he had required medical treatment and hospitalization several times.His sister presented similar symptoms and died at the age of two.On admission,his body weight was 5700 g(-4.8 SDS)and measured 66 cm(-5.4 SDS)in height.Meanwhile,he cannot speak or climb.He exhibited mild anemia,hypocalcemia,hypomagnesemia,and an infection in the upper respiratory tract.Microvilli sparse and vacuolar degeneration of epithelial cells were reported by small intestine biopsy.Whole-exome sequencing showed a novel homozygous splice mutation(c.657+1[IVS6]G>A)in the EPCAM gene.He was treated with TPN and recombinant human growth hormone.After 2 mo,his body weight was up to 8500 g and he has been waiting for small bowel transplantation.CONCLUSION CTE is rare but fatal.Patients with CTE require rapid diagnosis and therapy to improve their survival.

关 键 词：Congenital tufting enteropathy Congenital diarrhea Failure to thrive CHILDREN Case report 

分 类 号：R725.7[医药卫生—儿科]