Etiology

 ADPKD

• In 50% of cases, polycystic liver disease (PLD) is associated with autosomal dominant polycystic kidney disease (ADPKD), which is caused by mutations in the PKD1 and PKD2 genes that encode polycystin-1 and -2, respectively.
• These proteins form a polycystin-1/2 complex on the plasma membrane, including that localized on the surface of primary cilia, where they act as mechanosensors.
• Polycystin-1 acts as a (mechano)receptor of environmental signals, and polycystin-2 as a calcium channel mediating intracellular transduction.

 isolated autosomal dominant polycystic liver disease (ADPLD)

• ADPLD is caused by mutations in PRKCSH that encodes hepatocystin, a protein of the endoplasmic reticulum, which may participate in the N-glycosylation and maturation of proteins addressed to the cell surface.

 Congenital hepatic fibrosis +/- Caroli disease

• autosomal recessive polycystic kidney disease (ARPKD)
• ARPKD is caused by mutations in PKHD1 that encodes fibrocystin, a protein of primary cilia
• Genetic defects in fibrocystin cause ciliary dysfunction, presently considered as a major pathogenic event in hepatic cystogenesis and renal cystogenesis.

See also

 cystic kidney disease (CKDs)

• polycystic kidney diseases (PKDs)

References

 Housset C. [Cystic liver diseases. Genetics and cell biology] Gastroenterol Clin Biol. 2005 Aug-Sep;29(8-9):861-9. French. PMID: 16294159