Alkhalifa Shooq, Darwish Aysha, Awadh Mohamed, Alkhalifa Salman M, Darwish Abdulla
BDF Royal Medical Services, Riffa, Bahrain.
RCSI-Bahrain, Riffa, Governorate, Bahrain.
Case Rep Pediatr. 2023 Jan 25;2023:6301065. doi: 10.1155/2023/6301065. eCollection 2023.
Congenital tufting enteropathy (CTE), also known as intestinal epithelial dysplasia (IED), is a rare autosomal recessive disorder due to EPCAM gene mutation. It is a rare congenital enteropathy that presents in early infancy as an intractable diarrhea that is independent of breast formula feeding that requires life-long total parental nutrition (TPN) to acquire adequate calories and fluid intake or small bowel transplantation in severe cases. Here, we report a case of intestinal failure due to congenital tufting enteropathy in a 3-year-old girl who presented with loose stools and failure to thrive. This study aims to review the literature about CTE and discuss the clinicopathological aspects and to be able to distinguish it from other causes of congenital diarrheal disorders (CDDs).
先天性簇绒性肠病（CTE），也称为肠上皮发育异常（IED），是一种由EPCAM基因突变引起的罕见常染色体隐性疾病。它是一种罕见的先天性肠病，在婴儿早期表现为难治性腹泻，与母乳喂养无关，严重时需要终身完全肠外营养（TPN）以获取足够的热量和液体摄入，或进行小肠移植。在此，我们报告一例3岁女孩因先天性簇绒性肠病导致肠衰竭的病例，该女孩表现为腹泻和发育不良。本研究旨在回顾关于CTE的文献，讨论其临床病理特征，并能够将其与先天性腹泻性疾病（CDD）的其他病因相区分。
