Kusafuka T, Puri P
Department of Pediatric Surgery, Osaka University Medical School, Japan.
Semin Pediatr Surg. 1998 Aug;7(3):148-55. doi: 10.1016/s1055-8586(98)70010-1.
Hirschsprung's disease (HD) is a relatively common cause of intestinal obstruction in the newborn, characterized by the absence of autonomic ganglion cells in the terminal bowel. Existence of familial cases indicates that genetic factors may be involved in the etiology of some cases of HD. Different inheritance patterns observed in subsets of HD families or kindreds, and the detection of different chromosome aberrations in some HD patients, suggest genetic heterogeneity of HD. Recent expansion of molecular genetics has identified multiple susceptibility genes of HD. These include the RET gene, the glial cell-derived neurotrophic factor gene, the endothelin-B receptor gene, and endothelin-3 gene. Furthermore, some other genes or genetic factors are speculated to be implicated in the development of HD, and it is believed that multiple factors play a role in disease development in some cases. Taken together, these data suggest and may explain the complexity of the etiology of HD. This review focuses on recent advances in our understanding of the genetic aspects of HD.
先天性巨结肠（HD）是新生儿肠梗阻的相对常见病因，其特征是终末肠段缺乏自主神经节细胞。家族性病例的存在表明，遗传因素可能参与了某些HD病例的病因。在HD家族或亲属的亚组中观察到不同的遗传模式，以及在一些HD患者中检测到不同的染色体畸变，提示HD存在遗传异质性。分子遗传学的最新进展已鉴定出多个HD易感基因。这些基因包括RET基因、胶质细胞源性神经营养因子基因、内皮素-B受体基因和内皮素-3基因。此外，推测其他一些基因或遗传因素也与HD的发生有关，并且认为在某些情况下多种因素在疾病发展中起作用。综上所述，这些数据提示并可能解释HD病因的复杂性。本综述重点关注我们对HD遗传方面认识的最新进展。
