Maturation therapy of enteric ganglia for pseudo-Hirschsprung's disease.

本课题对先天性巨结肠病及其相关疾病患儿肠神经节成熟治疗的可行性进行了研究。对遗传性和散发性巨结肠患儿RET原癌基因进行突变分析。RET原癌基因的种系突变也在多发性内分泌瘤（MEN） 2A型、MEN 2B型和遗传性甲状腺髓样癌（FMTC）的家系中被描述。神经嵴源性细胞的病理被认为与这些疾病密切相关。需要进一步的研究来检查RET突变模式与肠神经节病等疾病表达类型之间的可能关联。这些RET突变模式的变化可用于对这些疾病的高风险携带者进行遗传诊断，并为这些疾病实体制定治疗方法。

In this research project, possible maturation therapy of enteric ganglia for children with Hirschsprung's disease and its related disorders was studied. Mutational analysis of the RET proto-oncogene in children with hereditary and sporadic Hirschsprung's disease was performed. Germline mutations of the RET proto-oncogene have been described also in pedigrees with multiple endocrine neoplasia (MEN) type 2A,MEN type 2B,and hereditary medullary thyroid carcinoma (FMTC). Pathology of neural crest-derived cells is supposed to be intimately associated with these diseases. Further investigations are required to examine possible association between the RET mutational pattern and type of disease expression as intestinal aganglionosis. These variations of mutational pattern of RET may be apllied to make a genetic diagnosis of high risk carriers for these diseases and also to make therapeutic approach for these disease entities.