"Nephronophthisis-congenital hepatic fibrosis": an additional hepatorenal disorder

Abstract

This report describes two siblings, male and female, with a distinctive hereditary hepatorenal disorder. Review of the literature indicates that 11 cases have been reported outside the United States. The condition may first develop from early infancy to adolescence, and it is characterized in the great majority of instances by clinically severe renal disease. At some time in the course of the disease, hepatomegaly is present in all patients, and splenomegaly is common. Additional lesions and other abnormalities, including retinal lesions, mental retardation, cerebellar and osseous abnormalities, have been reported in some patients. Histologically, the renal lesion resembles nephronophthisis, and the hepatic lesion resembles congenital hepatic fibrosis. Mortality (due to the renal disease) is very high, and the longest-surviving patient was 14 years old at the time of death.