Liver diseases constitute an important medical problem, and a number of these diseases, termed cholangiopathies, affect the biliary system of the liver. In this review, we describe the current understanding of the causes of cholangiopathies, which can be genetic, viral or environmental, and the few treatment options that are currently available beyond liver transplantation. We then discuss recent rapid progress in a number of areas relevant for decoding the disease mechanisms for cholangiopathies. This includes novel data from analysis of transgenic mouse models and organoid systems, and we outline how this information can be used for disease modeling and potential development of novel therapy concepts. We also describe recent advances in genomic and transcriptomic analyses and the importance of such studies for improving diagnosis and determining whether certain cholangiopathies should be viewed as distinct or overlapping disease entities.
Keywords: Alagille syndrome; Bile duct; Biliary atresia; Cholangiocyte; Cystic fibrosis; Hepatocyte; Liver; Organoid; Primary biliary cholangitis (PBC); Primary sclerosing cholangitis (PSC); Transplant.
Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.