进行性家族性肝内胆汁淤积症。
Progressive Familial Intrahepatic Cholestasis.
机构信息
Department of Medicine and Institute for Human Genetics, University of California San Francisco, UCSF Liver Center Laboratory, Zuckerberg San Francisco General, 1001 Potrero Avenue, Building 40, Room 4102, San Francisco, CA 94110, USA.
Institute of Liver Studies, King's College London, King's College Hospital, Denmark Hill, London SE5 9RS, UK.
出版信息
Clin Liver Dis. 2018 Nov;22(4):657-669. doi: 10.1016/j.cld.2018.06.003. Epub 2018 Aug 3.
Genetic cholestasis has been dissected through genetic investigation. The major PFIC genes are now described. ATP8B1 encodes FIC1, ABCB11 encodes BSEP, ABCB4 encodes MDR3, TJP2 encodes TJP2, NR1H4 encodes FXR, and MYO5B encodes MYO5B. The full spectra of phenotypes associated with mutations in each gene are discussed, along with our understanding of the disease mechanisms. Differences in treatment response and targets for future treatment are emerging.
遗传性胆汁淤积症已通过遗传研究进行了剖析。现在已描述了主要的 PFIC 基因。ATP8B1 编码 FIC1，ABCB11 编码 BSEP，ABCB4 编码 MDR3，TJP2 编码 TJP2，NR1H4 编码 FXR，MYO5B 编码 MYO5B。讨论了与每个基因中的突变相关的表型的全貌，以及我们对疾病机制的理解。治疗反应的差异和未来治疗的靶点正在出现。
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