非孤立性先天性肛门直肠畸形的遗传因素和信号途径的研究现状

摘要

先天性肛门直肠畸形（ARM）发病率占消化道畸形首位，分为孤立性ARM和合并其他畸形的非孤立性ARM。目前研究表明，ARM是多基因遗传疾病，遗传因素在疾病发生发展中起到重要作用。文章就非孤立性ARM相关的遗传因素及潜在的信号转导途径作一综述。%Anorectal malformations (ARM) are the most common congenital gastrointestinal malformation and can be classified in-to isolated and non-isolated ARM. Studies so far suggest that ARM represents a multifactorial disorder in which genetic alterations plays an important role in the genesis and development. In this review, we examine hereditary factors and the underlying signaling pathways involved in non-isolated ARM to provide a genetic basis for further study.