03.09.2026journal-article
Frontiers in Pediatrics
Congenital hepatic fibrosis and related ciliopathies across the life course: current management, disease burden, and unmet needs in the era of genomic diagnosis and translational therapeutics
Congenital hepatic fibrosis (CHF) is a rare autosomal recessive hepatobiliary developmental disorder characterised by extensive fibrosis of the portal tracts and ductal plate malformation, representing a significant cause of portal hypertension in children and adolescents. Despite its low incidence, the disease exhibits considerable clinical heterogeneity, ranging from asymptomatic presentations to severe complications of portal hypertension, thereby posing substantial diagnostic and management challenges. The long …