Polycystic liver diseases: congenital disorders of cholangiocyte signaling

Gastroenterology. 2011 Jun;140(7):1855-9, 1859.e1. doi: 10.1053/j.gastro.2011.04.030. Epub 2011 Apr 22.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Biliary Tract / abnormalities
  • Biliary Tract / metabolism*
  • Cysts / congenital
  • Cysts / genetics
  • Cysts / metabolism
  • Cysts / therapy
  • Disease Progression
  • Epithelial Cells / metabolism*
  • Epithelial Cells / pathology
  • Genetic Predisposition to Disease
  • Humans
  • Liver Diseases / congenital
  • Liver Diseases / genetics
  • Liver Diseases / metabolism
  • Liver Diseases / therapy
  • Signal Transduction* / genetics

Supplementary concepts

  • Polycystic liver disease