Enfermedad de von Hippel Lindau en una familia chilena: diagnóstico clínico y genético / Von Hippel Lindau disease: report of an affected family
Rev. chil. endocrinol. diabetes
; 3(1): 19-23, ene. 2010. graf
Article
em Es
| LILACS
| ID: lil-610313
Biblioteca responsável:
CL1.1
ABSTRACT
Von Hippel Lindau disease is a hereditary syndrome characterized by the appearance of benign and malignant tumors in different organs. Its incidence is 1 case per 36000 born alive. We report a family with the disease. The index case was a male with a bilateral pheochromocytoma and cerebelar and retinal hemagioblastomas that had a sudden death due to a cerebrovascular accident at the age of 52 years. One sibling had central nervous system and retinal hemangioblastomas and other was operated for an unilateral pheochromocytoma. Both siblings had the R167Q VHL mutation of the syndrome. Other family members did not have the mutation.
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Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Doença de von Hippel-Lindau
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
País/Região como assunto:
America do sul
/
Chile
Idioma:
Es
Revista:
Rev. chil. endocrinol. diabetes
Assunto da revista:
ENDOCRINOLOGIA
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Chile