Genetics, pathobiology and therapeutic opportunities of polycystic liver disease

Paula Olaizola, Pedro M. Rodrigues, Francisco J. Caballero-Camino, Laura Izquierdo-Sanchez, Patricia Aspichueta, Luis Bujanda, Nicholas F. Larusso, Joost P.H. Drenth, Maria J. Perugorria, Jesus M. Banales

Research output: Contribution to journalReview articlepeer-review


Polycystic liver diseases (PLDs) are inherited genetic disorders characterized by progressive development of intrahepatic, fluid-filled biliary cysts (more than ten), which constitute the main cause of morbidity and markedly affect the quality of life. Liver cysts arise in patients with autosomal dominant PLD (ADPLD) or in co-occurrence with renal cysts in patients with autosomal dominant or autosomal recessive polycystic kidney disease (ADPKD and ARPKD, respectively). Hepatic cystogenesis is a heterogeneous process, with several risk factors increasing the odds of developing larger cysts. Depending on the causative gene, PLDs can arise exclusively in the liver or in parallel with renal cysts. Current therapeutic strategies, mainly based on surgical procedures and/or chronic administration of somatostatin analogues, show modest benefits, with liver transplantation as the only potentially curative option. Increasing research has shed light on the genetic landscape of PLDs and consequent cholangiocyte abnormalities, which can pave the way for discovering new targets for therapy and the design of novel potential treatments for patients. Herein, we provide a critical and comprehensive overview of the latest advances in the field of PLDs, mainly focusing on genetics, pathobiology, risk factors and next-generation therapeutic strategies, highlighting future directions in basic, translational and clinical research.

Original languageEnglish (US)
Pages (from-to)585-604
Number of pages20
JournalNature Reviews Gastroenterology and Hepatology
Issue number9
StatePublished - Sep 2022

ASJC Scopus subject areas

  • Hepatology
  • Gastroenterology


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