The Lillian and Henry Stratton-Hans Popper Department of Pathology, Mount Sinai School of Medicine, New York, New York 10029, USA.
Semin Liver Dis. 2011 Feb;31(1):3-10. doi: 10.1055/s-0031-1272831. Epub 2011 Feb 22.
Progressive familial intrahepatic cholestatic diseases encompass a group of autosomal recessive hereditary diseases, which usually present in infancy or childhood, with cholestasis of hepatocellular origin. The currently preferred nomenclature for the three PFIC disorders that have been characterized to date is FIC1 deficiency, BSEP deficiency, and MDR3 deficiency, relating to mutations in the specific genes involved in bile acid formation and transport. Since the first description of these diseases, extensive clinical, biochemical, and molecular studies have increased our understanding of the features specific to each one of them. This review focuses mainly on the liver histology, summarizing their characteristic pathologic features, the correlation to specific genotypes, and complications arising with disease progression.
进行性家族性肝内胆汁淤积症包括一组常染色体隐性遗传性疾病，通常在婴儿期或儿童期发病，以肝细胞来源的胆汁淤积为特征。目前，对于已经确定的三种 PFIC 疾病，首选的命名法是 FIC1 缺乏症、BSEP 缺乏症和 MDR3 缺乏症，与参与胆汁酸形成和转运的特定基因的突变有关。自这些疾病的首次描述以来，广泛的临床、生化和分子研究增加了我们对每种疾病特征的了解。这篇综述主要侧重于肝脏组织病理学，总结其特征性的病理特征、与特定基因型的相关性以及疾病进展引起的并发症。
