PDF(Pubmed)
Abstract：
Hepatocyte nuclear factor 1β (HNF1β) is essential for biliary development, while its genetic defect triggers the dysplasia of interlobular bile ducts, leading to life-threatening hepatitis and cholestasis. To date, this disorder has mainly been documented in neonates. Here, we report a case of cholestasis in an adult patient caused by a de novo HNF1β mutation. A liver biopsy revealed remarkable shrinkage of the portal area accompanied by a decrease or absence of interlobular bile ducts, veins, and arteries in the portal area. Our case showed that an HNF1β defect could induce late-onset cholestasis with paucity of the portal area in adulthood.
摘要：
肝细胞核因子1β(HNF1β)是胆道发育所必需的,虽然它的遗传缺陷会引发小叶间胆管的发育不良，导致危及生命的肝炎和胆汁淤积。迄今为止,这种疾病主要见于新生儿。这里,我们报道一例由HNF1β突变引起的成年患者胆汁淤积。肝活检显示门静脉区域明显收缩，伴有小叶间胆管减少或不存在，静脉,和入口区域的动脉.我们的病例表明，HNF1β缺陷可引起成年后门静脉区域缺乏的迟发性胆汁淤积。
