Open AccessPolycystic Liver Disease: Advances in Understanding and Treatment
Author(s) -
Tatyana V. Masyuk,
Anatoliy I. Masyuk,
Nicholas F. LaRusso
Publication year - 2022
Publication title -
annual review of pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 9.417
H-Index - 122
eISSN - 1553-4014
pISSN - 1553-4006
DOI - 10.1146/annurev-pathol-042320-121247
Subject(s) - polycystic liver disease , cholangiocyte , disease , polycystic kidney disease , biology , cancer research , bioinformatics , medicine , pathology , endocrinology , transplantation , liver transplantation
Polycystic liver disease (PLD) is a group of genetic disorders characterized by progressive development of cholangiocyte-derived fluid-filled hepatic cysts. PLD is the most common manifestation of autosomal dominant and autosomal recessive polycystic kidney diseases and rarely occurs as autosomal dominant PLD. The mechanisms of PLD are a sequence of the primary (mutations in PLD-causative genes), secondary (initiation of cyst formation), and tertiary (progression of hepatic cystogenesis) interconnected molecular and cellular events in cholangiocytes. Nonsurgical, surgical, and limited pharmacological treatment options are currently available for clinical management of PLD. Substantial evidence suggests that pharmacological targeting of the signaling pathways and intracellular processes involved in the progression of hepatic cystogenesis is beneficial for PLD. Many of these targets have been evaluated in preclinical and clinical trials. In this review, we discuss the genetic, molecular, and cellular mechanisms of PLD and clinical and preclinical treatment strategies.