Familial isolated pheochromocytoma presenting a new mutation in the von Hippel-Lindau gene.
Am J Hypertens
; 17(12 Pt 1): 1107-11, 2004 Dec.
Article
em En
| MEDLINE
| ID: mdl-15607616
ABSTRACT
We report a novel germ-line point mutation in the von Hippel-Lindau (vhl) gene in a family with childhood occurrence of isolated pheochromocytoma. Two members of this family (the father and his son) were affected. The son had bilateral adrenal pheochromocytoma and the father had one adrenal and one extra-adrenal localization. Both patients presented cardiac arrest while exposed to surgical stress and severe hypoglycemia was registered in the son. The outcome was uneventful. A DNA sequence analysis of vhl tumor suppressor gene revealed the L163R mutation. This new mutation may be specifically associated with the von Hippel-Lindau type 2C disease phenotype. Whether this mutation is linked to the metabolic alterations developed by these patients remains to be determined.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Feocromocitoma
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Mutação Puntual
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Neoplasias das Glândulas Suprarrenais
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Mutação em Linhagem Germinativa
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Proteína Supressora de Tumor Von Hippel-Lindau
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Doença de von Hippel-Lindau
Tipo de estudo:
Diagnostic_studies
/
Evaluation_studies
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Observational_studies
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Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
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Child
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Humans
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Male
Idioma:
En
Revista:
Am J Hypertens
Ano de publicação:
2004
Tipo de documento:
Article