VON-HIPPEL-LINDAU-DISEASE - AN IMPORTANT DIFFERENTIAL-DIAGNOSIS SF POLYCYSTIC KIDNEY-DISEASE

Van Hippel Lindau disease is a dominantly inherited familial cancer sy ndrome, characterized by retinal, spinal, and cerebellar haemangioblas tomas, renal cell carcinomas, and phaeochromocytomas. Cysts of the kid ney and pancreas may also occur. We describe a large three-generation Irish family with VHL disease who initially presented with features ty pical of autosomal dominant polycystic kidney disease. Eight clinicall y affected individuals were found. Visceral complications were particu larly prominent within the family. There were no erases of retinal ang iomata or phaeochromocytoma. The diagnosis was confirmed by genetic li nkage analysis in this family, although the exact mutation has yet to be defined.