先天性巨结肠作为一种神经发育异常性疾病。
Hirschsprung's disease as a neurochristopathy.
作者信息
Martucciello G
机构信息
Department of Pediatric Surgery, Istituto Giannina Gaslini, Genova, Italy.
出版信息
Pediatr Surg Int. 1997;12(1):2-10. doi: 10.1007/BF01194793.
PMID:9035201
Abstract
Recent molecular-genetic and histochemical studies of intestinal aganglionosis have confirmed the initial classification established by Bolande, who considered Hirschsprung's disease (HD) a neurocristopathy. This paper is a critical review of the results of molecular-genetic studies carried out from 1992 to date. In particular, the author focuses on the possible clinical impact of the identification of RET as a causative gene for HD.
摘要
近期关于肠道神经节缺如的分子遗传学和组织化学研究证实了博兰德最初确立的分类，他认为先天性巨结肠病（HD）是一种神经嵴病。本文是对1992年至今所开展的分子遗传学研究结果的批判性综述。特别地，作者着重探讨了将RET鉴定为HD致病基因可能产生的临床影响。
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