Kusafuka T, Puri P
Children's Research Centre, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
Pediatr Surg Int. 1997;12(1):19-23. doi: 10.1007/BF01194795.
The endothelin-B receptor gene (EDNRB) and the endothelin-3 gene (EDN3) have recently been recognized as susceptibility genes for Hirschsprung's disease (HD). Novel EDNRB mutations have been detected in non-syndromic HD patients with heterozygous forms, and homozygous mutations of the EDNRB or the EDN3 genes have been reported in HD patients associated with type 2 Waardenburg syndrome. These observations confirm that impaired function of the endothelin-B receptor or endothelin-3 is involved in the aetiology of some human HD cases. EDNRB mutations appear to be associated with short-segment HD, in contrast to RET mutations, which are found mainly in long-segment aganglionosis.
内皮素-B受体基因（EDNRB）和内皮素-3基因（EDN3）最近被确认为先天性巨结肠（HD）的易感基因。在非综合征性HD杂合型患者中检测到了新的EDNRB突变，并且在与2型瓦登伯格综合征相关的HD患者中报道了EDNRB或EDN3基因的纯合突变。这些观察结果证实，内皮素-B受体或内皮素-3功能受损与一些人类HD病例的病因有关。与主要在长段无神经节症中发现的RET突变相反，EDNRB突变似乎与短段HD有关。
