先天性肛门直肠畸形病因学研究进展  

Research advances in etiology of congenital anorectal malformations

作　　者：张博 侯亚如 康雪莲 董娟 李勇 Zhang Bo;Hou Yaru;Kang Xuelian;Dong Juan;Li Yong(Second Department of Anorectal,Qingyang Hospital of traditional Chinese Medicine,Qingyang 745000,China;School of Clinical Chinese Medicine,Gansu University of Chinese Medicine,Lanzhou 730000,China)

机构地区：[1]庆阳市中医医院肛肠二科,庆阳745000 [2]甘肃中医药大学中医临床学院,兰州730000

出　　处：《临床小儿外科杂志》2024年第5期496-500,共5页Journal of Clinical Pediatric Surgery

基　　金：甘肃省哲学社会科学规划项目(SH036)

摘　　要：肛门直肠畸形(anorectal malformation,ARM)是小儿常见的先天性消化道畸形,产前诊断率低,治疗手段主要包括后矢状入路肛门成形术及腹腔镜辅助肛门成形术,但大多数患儿会出现术后并发症。了解ARM病因机制有利于预防该病的发生,制定更合适的治疗方案。国内外学者认为ARM的发生可能与染色体异常、综合征伴发因素、环境因素、产前某些不良习惯以及孕妇自身因素有关。本文从遗传因素和非遗传因素两方面对ARM发病原因进行综述,同时对ARM发病机制及其涉及的相关信号通路、基因进行归纳总结。Anorectal malformation(ARM)is the most common congenital gastrointestinal malformation in children.It has a low prenatal diagnostic rate.The major treatments include posterior sagittal anoplasty and laparoscopic-assisted anoplasty.Most children develop postoperative complications.Understanding its etiology is helpful to prevent its occurrence and develop more appropriate treatments.Domestic and foreign scholars believe that the occurrence of ARM may be related to chromosomal abnormalities,syndrome associated factors,environmental factors and some unfavorable prenatal habits and maternal factors.Since its specific etiology has remained elusive,this review was intended to elucidate the pathogenesis of ARM from genetic and non-genetic factors and focused upon the pathogenesis of ARM and related signaling pathways and genes.

关 键 词：肛门直肠畸形 外科手术 儿童 

分 类 号：R726.5[医药卫生—儿科]