先天性肛门直肠畸形基础研究的进展与展望

Recent advances and future prospects of basic researches on congenital anorectal malformations

先天性肛门直肠畸形是一类表型及遗传异质性疾病,了解其发病机制有助于疾病的早期预防与治疗。在基础研究迅猛发展的今天,先天性肛门直肠畸形的研究深度远不如其他先天性疾病,研究方向亦相对局限。本文就先天性肛门直肠畸形基础研究(主要包括胚胎学研究、遗传学研究及表观遗传学研究)的进展与展望进行阐述。

Congenital anorectal malformations are a diverse set of phenotypic and genetically heterogeneous diseases.Understanding the underlying pathogenesis aids in its early preventions and treatments.In rapidly developing basic researches,the studies of congenital anorectal malformations are not as thorough as those of other congenital diseases and research direction is relatively limited.This review summarized the latest basic researches on congenital anorectal malformations(esp.embryological,genetic and epigenetic studies).