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Nephrology Dialysis Transplantation, Vol 12, Issue 6 1132-1136, Copyright © 1997 by Oxford University Press

ORIGINAL ARTICLES

Von Hippel-Lindau disease: an important differential diagnosis of polycystic kidney disease

G Browne, J Jefferson, G Wright, A Hughes, C Doherty, N Nevin and J Keogh
Renal Unit, Meath Hospital, Heytesbury Street, Dublin 8, Ireland, UK; Mary McGeown Regional Nephrology Unit, Belfast City Hospital, Belfast, UK; Department of Medical Genetics, Queen's University of Belfast, Belfast, N. Ireland, UK; Corresponding author

Von Hippell Lindau disease is a dominantly inherited familial cancer syndrome, characterized by retinal, spinal, and cerebellar haemangioblastomas, renal cell carcinomas, and phaeochromocytomas. Cysts of the kidney and pancreas may also occur. We describe a large three-generation Irish family with VHL disease who initially presented with features typical of autosomal dominant polycystic kidney disease. Eight clinically affected individuals were found. Visceral complications were particularly prominent within the family. There were no cases of retinal angiomata or phaeochromocytoma. The diagnosis was confirmed by genetic linkage analysis in this family, although the exact mutation has yet to be defined. Keywords: autosomal dominant polycystic kidney disease; von Hippel-Lindau disease; genetic linkage analysis; visceral complications; genetic characteristics
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