Polycystic liver diseases: Genetics, mechanisms, and therapies

Tatyana Masyuk, Anatoliy Masyuk, Nicholas LaRusso

Research output: Chapter in Book/Report/Conference proceedingChapter


Polycystic liver disease (PLD), a genetic cholangiociliopathy, is characterized by the presence of multiple liver cysts of different shape and size filled with cystic fluid. This chapter discusses the knowledge related to the genetics of PLD, the mechanisms involved, and potential therapeutic targets identified. PLD exists as an extra-renal manifestation of autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease or as isolated autosomal dominant PLD. Considerable progress in understanding of the genetic landscape in PLD and identification of dysregulated signaling pathways and abnormal cellular functions of hepatic cystogenesis facilitated the discovery of multiple potential therapeutic targets for disease treatment. The chapter also discusses promising monotherapies and combinational therapies in PLD treatment. Mounting evidence suggests that drug combinations might be more effective that monotherapies in PLD treatment. In PLD, a dysregulated mammalian target of rapamycin signaling network contributes to disease progression by affecting a spectrum of intracellular pathways, including growth factor signaling.

Original languageEnglish (US)
Title of host publicationThe Liver
Subtitle of host publicationBiology and Pathobiology
Number of pages14
ISBN (Electronic)9781119436812
ISBN (Print)9781119436829
StatePublished - Jan 24 2020


  • Autosomal dominant polycystic kidney disease
  • Autosomal dominant polycystic liver disease
  • Autosomal recessive polycystic kidney disease
  • Combinational drug therapies
  • Genetic landscape
  • Hepatic cystogenesis
  • Mono drug therapies

ASJC Scopus subject areas

  • General Medicine


Dive into the research topics of 'Polycystic liver diseases: Genetics, mechanisms, and therapies'. Together they form a unique fingerprint.

Cite this