Von Hippel-Lindau disease: an important differential diagnosis of polycystic kidney disease.
Nephrol Dial Transplant
; 12(6): 1132-6, 1997 Jun.
Article
en En
| MEDLINE
| ID: mdl-9198040
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.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Riñón Poliquístico Autosómico Dominante
/
Enfermedad de von Hippel-Lindau
Tipo de estudio:
Diagnostic_studies
Límite:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Nephrol Dial Transplant
Asunto de la revista:
NEFROLOGIA
/
TRANSPLANTE
Año:
1997
Tipo del documento:
Article
País de afiliación:
Irlanda