临床儿科杂志 ›› 2014, Vol. 32 ›› Issue (4): 388-391.

• 文献综述 • 上一篇    下一篇

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

沈玉洁1, 综述陈颖伟1, 2, 审校   

  1. 1. 上海交通大学医学院附属新华医院消化内科 (上海 200092)
    2. 上海市小儿消化与营养重点实验室 (上海 200092)
  • 收稿日期:2014-04-15 出版日期:2014-04-15 发布日期:2014-04-15

Research status of genetics and signaling pathways in non-isolated ARM 

Reviewer: SHEN Yujie, Reviser: CHEN Yingwei   

  1.  (Department of Gastroenterology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai Key Laberatery of Pediatric Gastroenterology and Nutrition, Shanghai 200092, China)
  • Received:2014-04-15 Online:2014-04-15 Published:2014-04-15

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。

Abstract: Anorectal malformations (ARM) are the most common congenital gastrointestinal malformation and can be classified into 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.