先天性巨结肠相关疾病和综合征

摘要

Hirschsprung's disease is a common cause of pediatric low intestinal obstruction, and its incidence is high and has gender difference. At present, it is considered to be multifactorial (polygenic) inheritance, and the genetic factors involved arc complicated. Nowadays the casuc of HD is still unknown, but it is frequently found to be associted with some syndromes, such as Shah-Waardenburg, Goldberg-Shprintzen, MEN2A, Fryns, Haddad syndrome. With the development of molecular biotechnology, some pathogenic genes closely related to HD have been found through the studies of the syndromes. This review aims to summarize the syndromes associtaed with HD in recent studies.%先天性巨结肠是小儿低位肠梗阻常见的致病因素,发病率高且有性别差异.目前认为其属于多基因遗传病,所涉及的遗传因素复杂.先天性巨结肠病因未明,但它往往出现在一些综合征中,与某些症状关联,如Shah-Waardenburg、Goldberg-Shprintzen、MEN2A、Fryns、Haddad等综合征.随着分子生物学技术的发展,目前已从综合征入手发现了一些与先天性巨结肠密切相关的致病基因,现对近几年国际上报道具有先天性巨结肠表现的综合征作一综述.