先天性肛门直肠畸形基因异常及其致病因素研究进展  

Research progress in genetic abnormalities and etiological factors of congenital anorectal malformation

作　　者：张艳莉[1] 任红霞[1] 

机构地区：[1]山西省儿童医院新生儿外科,太原030013

出　　处：《中华胃肠外科杂志》2016年第1期113-117,共5页Chinese Journal of Gastrointestinal Surgery

摘　　要：先天性肛门直肠畸形（ARM）是最常见的胃肠道先天性疾病，占消化道畸形的1／4，是世界卫生组织常规监测的先天性畸形之一。由于ARM发病因素多样及病理改变复杂，其具体病因至今仍不清楚，现普遍认为是遗传因素和环境因素共同作用的结果。国内外学者通过动物实验研究发现，Hox基因、Shh信号途径、Fgf基因、Wnt基因、Cdx和TCF4基因、Eph及其配体参与了消化道末端的发育，当这些基因／信号途径异常时均可导致肛门直肠畸形；此外，在妊娠期受到外界因素的影响也可导致其发育异常。由于人类胚胎发育过程中涉及的相关因素繁多，因而关于人类ARM发病机制的研究进展缓慢。本文对ARM的致病因素研究进展进行综述．旨在为寻找有效的预防和治疗手段提供理论依据。Congenital anoreetal malformation （ARM） is one of the most common gastrointestinal congenital diseases, accounting for 1/4 in digestive tract malformation, and is one of the congenital malformations in routine surveillance by the World Health Organization. Because of the variety of risk factors and the complexity of the pathological changes, etiology of ARM is still not clear. It is mostly considered that ARM is resulted from hereditary factors and environmental factors in the development of embryogenesis. Through animal experiments, scholars have found that Hox, Shh, Fgf, Wnt, Cdx and TCF4, Eph and ephrin play crucial role during the development of digestive tract. When the genes/signaling pathway dysfunction occurs, ARM may happen. In addition, ARM is related to the external factors in pregnancy. Because of the complexity of related factors in the development of human embryogenesis, the research progress of human ARM is very slow. This paper reviews relevant literatures in genetic factors and environmental factors, in order to provide the theoretical basis for the treatment and prevention of ARM.

关 键 词：先天性肛门直肠畸形 基因 致病因素 

分 类 号：R726.5[医药卫生—儿科]