Shh信号通路与先天性肛门直肠畸形的相关性研究.PDFVIP

中华临床医师杂志( 电子版)2016 年12 月第10 卷第24 期 Chin J Clinicians(Electronic Edition),December 15,2016,Vol.10,No.24 ²3835 ² ²综述² Shh 信号通路与先天性肛门直肠畸形的相关性研究 段利琼 任红霞 【摘要】 先天性肛门直肠畸形（ARM ）是小儿最常见的消化道畸形，其病因至今未被完全阐 明，多认为是环境因素和遗传因素共同作用所致。遗传因素方面，国内外研究均表明，Shh （ Sonic Hedgehog ）基因及其介导的信号通路与ARM 的发生密切相关。了解Shh 基因信号通路以及该通路 与ARM 的相关性为明确ARM 病因及更好地进行诊疗提供方向及理论基础。 【关键词】 肛门直肠畸形； Shh 信号通路 Correlation of Shh gene and anorectal malformation Duan Liqiong, Ren Hongxia. Department of Neonatal Surgery, Shanxi Childrens Hospital, Taiyuan 030013, China Corresponding author: Ren Hongxia, Email: renhongxia100@ 【Abstract 】 Anorectal malformations (ARM) is the most common in the gastrointestinal tract. Its exact etiology has not been fully elucidated and most people think it is caused by environmental and genetic factors. In regard to genetic factors, studies of domestic and overseas suggest that Shh gene and its signal transduction pathway is closely related to the occurrence of the ARM. Shh gene expresses in the endoderm and then regulates stromal hyperplasia and differentiation specificity of based layer cells, which plays an important role in the development of embryonic. Now to narrate the signaling pathways of Shh and the relationship between ARM and the pathways of ARM can provide a direction and theoretical basis for the etiology of ARM and better diagnosis and treatment for ARM. 【Key words 】 Anorectal malformations; Shh signal transduction 先天性肛门直肠畸形（anorectal malformations， 即Shh 蛋白，是一种与生长发育密切相关的信号转 ARM ）是小儿最常见的消化道畸形，我国ARM 发 导因子和形态发生因子，主要表达于内胚层的上皮 生率为1/5 000～1/2 000，目前尚无法通过产前检查 层。Shh 蛋白含有462 个氨基酸，由N-端、C-端2 发现。ARM 分型较多且病理组织学复杂，其具体 个区域构成，通过自我特异性催化反应，C-端发生 的发病机制及致病原因尚不明确。国内外关于其遗 胆固醇依赖性