Congenital Hepatic Fibrosis and Nephronophthisis

Abstract A family with congenital hepatic fibrosis is presented. Two of the siblings died in renal failure and a third is being maintained on chronic hemodialysis. The liver disease in this family is not severe, being limited to a firm hepatomegaly and only minor biochemical derangements. The liver histology in the two deceased brothers was congenital hepatic fibrosis. None of the five affected siblings exhibited signs of portal hypertension. The renal symptoms in three of the siblings were initially insidious with no findings in the urinary sediment but progressed rapidly in the later stages of the disease. A renal biopsy and renal histology at post-mortem were compatible with nephro-nophthisis. The association of nephronophthisis with congenital hepatic fibrosis has not to our knowledge been previously reported. The prognosis of the patient depends on the extent to which the kidney or liver is involved and in this family the kidney appears to have borne the brunt of the disease.