title: Polycystic liver diseases: congenital disorders of cholangiocyte signaling.
abstract: Polycystic liver diseases (PLD) are inherited disorders of the biliary epithelium, caused by genetic defects in proteins associated with intracellular organelles, mainly the endoplasmic reticulum and the cilium. PLD are characterized by the formation and progressive enlargement of multiple cysts scattered throughout the liver parenchyma, and include different entities, classified based on their pathology, inheritance pattern, involvement of the kidney and clinical features. PLD should be considered as congenital diseases of cholangiocyte signaling. Here, we will review the changes in signaling pathways involved in liver cyst formation and progression, and their impact on cholangiocyte physiology. Each pathway represents a potential target for therapies aimed at reducing disease progression.
authors.affiliation: Liver Center and Section of Digestive Diseases, Department of Internal Medicine, School of Medicine, Yale University, New Haven, Connecticut 06520, USA. mario.strazzabosco@yale.edu
authors.forename: Mario
authors.initials: M
authors.lastname: Strazzabosco
authors.forename: Stefan
authors.initials: S
authors.lastname: Somlo
mesh_terms: D001659:Biliary Tract / Q000002:abnormalities / Q000378:metabolism*; D003560:Cysts / Q000151:congenital / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D018450:Disease Progression; D004847:Epithelial Cells / Q000378:metabolism* / Q000473:pathology; D020022:Genetic Predisposition to Disease; D006801:Humans; D008107:Liver Diseases / Q000151:congenital / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D015398:Signal Transduction / Q000235:genetics