AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE LINKED TO PKD2 LOCUS IN A FAMILY WITH SEVERE EXTRARENAL MANIFESTATIONS

We report a large three-generation autosomal dominant polycystic kidne y disease family from Northern Italy found to be associated with the P KD2 locus. Hepatic involvement (liver cysts, fibrosis, cholelithiasis or jaundice), subarachnoidal hemorrhage (1 case) and esophageal divert icula (I case) were present in affected individuals. Among the older m embers, the males (aged 54-61 years) had hepatic cysts or fibrosis and were on chronic hemodialysis, the females (aged 69 and 70 years) had hepatic cysts, hepatomegaly, mild fibrosis and a mild and moderate ren al impairment, respectively, In this family,clinical findings do not d iffer substantially from those reported for PKD1.