Shh信号通路与先天性肛门直肠畸形的相关性研究

Correlation of Shh gene and anorectal malformation

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。

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.