Background
Congenital hepatic fibrosis (CHF) is a rare hepatorenal ciliopathy caused by ductal plate malformation and characterized by abnormal development of the intrahepatic biliary system and progressive portal fibrosis with preservation of the hepatic lobular architecture. The term “congenital hepatic fibrosis” may be misleading, since fibrosis is not a static condition present at birth but rather evolves progressively.
Although CHF is congenital in origin, its clinical presentation is highly heterogeneous and age dependent. Children, particularly those with autosomal recessive polycystic kidney disease, often develop early portal hypertension-related manifestations, whereas adults may present with incidental findings, biliary complications, or decompensated portal hypertension.
Given the rarity of CHF, the limited available evidence, and the burden of portal hypertensive and biliary complications throughout life, robust natural history data are needed to improve prognostication and guide management. We therefore propose a retrospective multicentre cohort study including pediatric and adult patients with CHF to characterize long-term outcomes and identify factors associated with disease progression and the need for advanced therapeutic interventions.
Study design and data collection
This is an observational, retrospective, multicenter international study. Data will be retrospectively collected from medical records using a dedicated electronic case report form. Clinical, laboratory, imaging, genetic, and histopathological data will be collected from diagnosis through follow-up. All data will be pseudonymized and patients will be assigned unique center-specific identifiers.
Inclusion criteria:
Pediatric patients (<16 years at diagnosis) with histologically confirmed CHF, genetically confirmed ciliopathy with clinical features consistent with CHF, or clinically presumed CHF according to predefined diagnostic criteria.
Adult patients (≥16 years at diagnosis) with histologically confirmed CHF or clinically presumed CHF according to predefined diagnostic criteria.