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