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

本研究旨在探讨肠神经节成熟疗法治疗先天性巨结肠症及其相关疾病的可能性。对遗传性和散发性先天性巨结肠症患儿进行了RET原癌基因突变分析。RET原癌基因的胚系突变也在多发性内分泌肿瘤(MEN)2A型、MEN 2B型和遗传性髓样甲状腺癌(FMTC)家系中被描述。神经脊来源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验RET突变模式与肠道无神经节细胞增多症等疾病表现类型之间的可能联系。RET突变模式的这些变异可用于对这些疾病的高危携带者进行基因诊断，并为这些疾病实体的治疗提供途径。

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.