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J Hepatol. 2016 Sep;65(3):631-42. doi: 10.1016/j.jhep.2016.04.032. Epub 2016 May 6.

Biliary atresia and other cholestatic childhood diseases: Advances and future challenges.

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Department of Paediatrics, University of Groningen, Beatrix Children's Hospital/University Medical Center, Groningen, The Netherlands. Electronic address:
Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Department of Paediatric Surgery, King's College Hospital, Denmark Hill, London, UK.
Department of Paediatrics, University of British Columbia, Vancouver, Canada.
Paediatric Liver, GI & Nutrition Centre, King's College London School of Medicine at King's College Hospital, London, UK.
Department of Paediatric Surgery, University of Groningen, Beatrix Children's Hospital-University Medical Center, Groningen, The Netherlands.
Section of Paediatric Gastroenterology, Hepatology, and Nutrition, Department of Paediatrics, University of Colorado School of Medicine, Digestive Health Institute, Children's Hospital Colorado, Aurora, CO, USA.
Liver Unit, Birmingham Children's Hospital NHS Trust, Birmingham, UK.
Department of Paediatric Surgery, Hannover Medical School, Hannover, Germany.
Department of Paediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.


Biliary Atresia and other cholestatic childhood diseases are rare conditions affecting the function and/or anatomy along the canalicular-bile duct continuum, characterised by onset of persistent cholestatic jaundice during the neonatal period. Biliary atresia (BA) is the most common among these, but still has an incidence of only 1 in 10-19,000 in Europe and North America. Other diseases such as the genetic conditions, Alagille syndrome (ALGS) and Progressive Familial Intrahepatic Cholestasis (PFIC), are less common. Choledochal malformations are amenable to surgical correction and require a high index of suspicion. The low incidence of such diseases hinder patient-based studies that include large cohorts, while the limited numbers of animal models of disease that recapitulate the spectrum of disease phenotypes hinders both basic research and the development of new treatments. Despite their individual rarity, collectively BA and other cholestatic childhood diseases are the commonest indications for liver transplantation during childhood. Here, we review the recent advances in basic research and clinical progress in these diseases, as well as the research needs. For the various diseases, we formulate current key questions and controversies and identify top priorities to guide future research.


Alagille syndrome; Biliary atresia; Biliary diversion; Choledochal cyst; Choledochal malformation; Liver transplantation; Progressive familial intrahepatic cholestasis

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