CBackground: CHF is a rare disease. Since its discovery in 1856 only a few hundred cases have been reported.The disease is caused by mutation in a single gene locus localized in the 6p21.1-p12 region- the
locus PKHD1- polycystic kidney and hepatic disease. Both renal and hepatic abnormalities are present in all affected patients, although there is a predominance of renal disease in young children and of hepatic disease in adolescents and young adults.ase Report: We report a case of congenital hepatic fibrosis in a 23-year-old white woman with severe portal hypertension, esophageal and gastric varices and raised cholestatic enzymes. Radiological imaging techniques (ultrasonography, computed tomography and magnetic resonance) showed evidences of polycystic kidney disease with hepatic involvement. Magnetic resonance cholangiopancreatography did not show ectasia of the larger bile ducts. Despite the hepatic and renal abnormalities the patient was in perfect overall condition. No signs and symptoms of hepatic and kidney failure were present. The final diagnosis was based on the histological appearances of the wedge liver biopsy specimen with broad bands of fibrous tissue containing many bile ducts surrounding lobules.Conclusions: The long-term outcome of adults escaping renal insufficiency above the age of 18 is unknown. With prolonged survival, the portal hypertension may lead to life-threatening complications, including recurrent variceal hemorrhage. It remains unclear whether a recurrence of esophageal variceal bleeding should be treated with sclerotherapy, portal-systemic shunt or liver transplantation in view of the risk related to the possible progression of the destructive cholangiopathy and development of malignant tumors. This decision depends on the patient’syet-unpredictable clinical and functional evolution.

Keywords: congenital hepatic fibrosis, autosomal recessive polycystic kidney disease, computedtomography, magnetic resonance cholangiopancreatography, wedge liver biopsy, Ultrasonography