Congenital hepatic fibrosis with novel mutations in PKD1 gene masquerading as early cryptogenic cirrhosis: a rare case report

Abstract

Background: Congenital hepatic fibrosis (CHF) is a rare disorder of the porto-biliary system occurring due to the defective remodeling of ductal architecture leading to progressive fibrosis of the portal tract. Though classically, CHF has been reported to be associated with autosomal recessive polycystic kidney disease (ARPKD), there have been only a few reports associating CHF with autosomal dominant polycystic kidney disease (ADPKD). Also, there is a lack of proper sequencing panels and gene database covering CHF-related genes in the medical literature. CHF often presents with features of portal hypertension without overt signs or symptoms of liver disease. However, often due to lack of awareness among radiologists and physicians, such cases might get labeled as early stage of cryptogenic cirrhosis. Case presentation: Here, we report a 17-year-old boy who presented with a portal hypertensive bleed. Though initially an early phase of cirrhosis was suspected, no identifiable cause was found. Though he had grade IV esophageal varices, the liver function was absolutely normal with no signs of liver failure. This further leads to subsequent cross-sectional imagings which lead to the diagnosis of CHF. Further genetic analysis revealed it to be a rare case of CHF associated with ADPKD, with some novel mutations in the PKD1 gene. Conclusion: CHF is a rare disorder needing a high index of suspicion and awareness. The presence of classic radiological morphological features of left lobe hypertrophy and right lobe atrophy with the tell-tale histopathological findings, fibrous enlargement of the portal tract, and irregularly shaped proliferating bile ducts often clinches the diagnosis.