先天性巨结肠病因学研究进展

The development on the etiology of hirschsprung’s disease

先天性巨结肠，是一种神经嵴细胞源性疾病和多基因遗传病，其病因至今虽然尚未完全清楚，但对该病病因和发病机制的研究已取得较大的进展。本文从遗传学、Cajal问质细胞、缝隙连接蛋白43和环境因素等方面阐述HD的发病原因。

Hirschsprung＇ s disease （HD） , a congenital disease, is characterized by the absence of ganglion cells in the ganglion plexuses of the caudal most gut. It stands as a model for complex multifactorial or multigenic disorders . In the last two decades, there has been a greater understanding of the etiopathogenisis and pathogenesy of hirschsprung＇ s disease. The goals of this review are to summarize progress in the study of etiological factor, such as genic mutation, the disorders of the interstitial cells of Cajal and connexin 43 （ Cx43 ） , the effect of environment.