AlMahamed Shaden, Hammo Abdelhai
Department of Pediatrics, Division of Pediatric Gastroenterology and Hepatology, King Fahad Specialist Hospital, Dammam, Saudi Arabia.
Saudi J Gastroenterol. 2017 Mar-Apr;23(2):123-126. doi: 10.4103/1319-3767.203359.
BACKGROUND/AIM: Tufting enteropathy (TE) is a rare cause of congenital intractable diarrhea in children. It often results in an irreversible intestinal failure and total parenteral nutrition (TPN) dependency; eventually, intestinal transplantation may be necessary. Data on TE from the Middle East are scarce; therefore, our aim of conducting this study was to clarify the clinical, histopathologic, and molecular features of TE in Saudi children.
This was a retrospective chart review of four children with TE who presented between January 2011 and December 2013 to King Fahad Specialist Hospital-Dammam (KFSH-D). The diagnosis of TE was suspected based on characteristic histopathologic intestinal biopsy findings and confirmed by EpCAM gene testing.
Molecular testing identified two novel mutations in the EpCAM gene in our patients. These mutations were associated with severe phenotype of the disease characterized by very early onset (median of 2 weeks of life), TPN dependency, and death during early childhood. Two patients died due to central line-related complications. Two patients were referred for intestinal transplantation due to loss of intravenous access in one and progressive liver disease in the other.
Mutations in EpCAM gene in Saudi children are characterized by severe phenotype and poor outcome.
背景/目的：簇绒性肠病（TE）是儿童先天性顽固性腹泻的罕见病因。它常导致不可逆的肠衰竭和完全胃肠外营养（TPN）依赖；最终，可能需要进行肠移植。中东地区关于TE的数据稀缺；因此，我们开展本研究的目的是阐明沙特儿童TE的临床、组织病理学和分子特征。
这是一项对2011年1月至2013年12月期间在法赫德国王专科医院 - 达曼（KFSH - D）就诊的4例TE患儿的回顾性病历审查。基于特征性的组织病理学肠道活检结果怀疑TE诊断，并通过EpCAM基因检测得以确诊。
分子检测在我们的患者中发现了EpCAM基因的两个新突变。这些突变与该疾病的严重表型相关，其特征为发病极早（中位发病年龄为2周龄）、TPN依赖以及在幼儿期死亡。2例患者死于与中心静脉导管相关的并发症。2例患者因其中1例失去静脉通路以及另1例出现进行性肝病而被转诊进行肠移植。
沙特儿童EpCAM基因突变的特征是表型严重且预后不良。
