虽然先天性巨结肠(HD)的病因学研究较多，比如"基因异常学说"、"肠壁微环境变化学说"，但都不能独立地阐释其发病机制。病因不明确也导致了HD诊疗的困难。我们前期研究证实作为肠壁微环境重要物质的层粘连蛋白在HD肠壁中的表达与RET基因成负相关，预实验发现对突触有重要作用的Neuroligin基因和肠壁微环境另一重要物质纤维粘连蛋白均与HD关系密切，于是提出假说：HD的发病是"基因异常"和"肠壁微环境变化"共同作用的结果，Neuroligin与纤维粘连蛋白具有相关性和相互调控作用且与HD发病密切相关。为验证这一假说，我们将采用多种技术在人体组织、细胞和动物三个层面探讨Neuroligin与纤维粘连蛋白的相关性及相互调控机制在HD发病中的作用，从"基因异常学说"和"肠壁微环境变化学说"共同作用这一新视点为揭示HD发病机制奠定基础，为诊疗提供新的思路。

Although there are many studies on the etiology of Hischsprung's disease (HD), such as "the theory of Gene-abnormality" and "the theory of intestinal microenvironmental change", the pathogenesis of HD is still not clear, which caused the difficulties of clinical diagnosis and treatment. We have preliminarily confirmed that there was a negative correlation between the expression of laminin, one important protein of the intestinal microenvironment, and the expression of RET gene, which suggested us that the pathogenesis of HD may be revealed by the correlation between "the theory of Gene-abnormality" and "the theory of intestinal microenvironmental change". And we also found that Neuroligin, which were important to the function and development of synapse and Fibronectin(another important protein of the intestinal microenvironment) had close relationship with the pathogenesis of HD. So in this study, we will discuss the correlation between "the theory of Gene-abnormality" and "the theory of intestinal microenvironmental change" on the base of the interaction of Fibronectin and Neuroligin, in order to reveal the real pathogenesis of HD and help the clinical diagnosis, treatment and prevention.