先天性巨结肠症的病因学研究进展

Progress on the etiology of the Hirschsprung＇s disease

先天性巨结肠症病因学主要研究进展是遗传因素及胚胎早期微环境改变.遗传因素包括RET-GDNF系统、EDNRB-EDN3系统及其参与调控的基因（SOX10、NRG-1、FoxD3、PHOX2B、HOXB5、ZFHX1B等）,为神经嵴细胞迁移和分化所必需.胚胎早期微环境变化包括Cajal质细胞、细胞黏附分子L1、Ca^2＋等.细胞黏附分子L1可能是神经嵴来源细胞迁移与分化的基础,Ca^2＋依赖途径的表达减少造成平滑肌收缩活性异常.

The major progress on the study of etiology of the Hirschsprung＇s disease is the genetic factots and the aherations of microenvironment in primarily embryogenic period.The genetic factors comprise of RETGDNF system.EDNRB.EDN3 system,and many other genes involving in the formulation of the tormer two svstems.such as SOX10,NRG-1, FoxD3,PHOX2B,HOXB5,ZFHXIB,all of which file essencial for the migration and differentiation of neural crest cells（NCC）.The alterations of microenvironment in primarily embryogenic period include interstitial ceLls of cajal（ICC）,cell adhesion molecules（CAMLl）,Ca2＋ and so on.Definitely,CAML1 plays as the basis of NCC＇s migration and differentiation,and the decline of the Ca2＋dependent channel＇s expression brings about the anolnaloug contraction of smooth muscle.