期刊文献+

New mutation in EPCAM for congenital tufting enteropathy:A case report 被引量:2

下载PDF
导出
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.
出处 《World Journal of Clinical Cases》 SCIE 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。
  • 相关文献

同被引文献6

引证文献2

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部