title: Von Hippel-Lindau disease: an important differential diagnosis of polycystic kidney disease.
abstract: Von Hippel 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.
authors.affiliation: Renal Unit, Meath Hospital, Dublin, Ireland.
authors.forename: G
authors.initials: G
authors.lastname: Browne
authors.forename: J A
authors.initials: JA
authors.lastname: Jefferson
authors.forename: G D
authors.initials: GD
authors.lastname: Wright
authors.forename: A E
authors.initials: AE
authors.lastname: Hughes
authors.forename: C C
authors.initials: CC
authors.lastname: Doherty
authors.forename: N C
authors.initials: NC
authors.lastname: Nevin
authors.forename: J A
authors.initials: JA
authors.lastname: Keogh
mesh_terms: D000293:Adolescent; D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed; D006623:von Hippel-Lindau Disease / Q000175:diagnosis* / Q000235:genetics