Bilateral pheochromocytoma as first presentation of von Hippel-Lindau disease in a Chinese family / 中国医学科学杂志(英文版)
Chinese Medical Sciences Journal
;
(4): 197-201, 2009.
Article
Dans Anglais
| WPRIM
| ID: wpr-302621
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the clinical and genetic features of a Chinese family with von Hippel-Lindau (VHL) disease revealed by bilateral pheochromocytoma.</p><p><b>METHODS</b>The proband and other members in a Chinese family with familial pheochromocytoma were clinically evaluated and followed up. Genomic DNA extracted from the peripheral blood of 8 family members (including 3 patients) was amplified by polymerase chain reaction (PCR) and the PCR products were directly sequenced.</p><p><b>RESULTS</b>The first presentation in the proband, his mother, and his sister was bilateral pheochromocytoma, and the missense mutation of 695G-A (Arg161Gln) in exon 3 of VHL gene was detected in the three patients. In the follow-up study, the proband and his mother were found to have other VHL tumors, induding retinal and cerebellar hemangioblastomas and pancreatic tumor. Neither clinical presentation of VHL disease nor gene mutation was found in other family members.</p><p><b>CONCLUSION</b>VHL disease should be suspected in some patients with familial pheochromocytoma, and VHL gene screening helps to achieve early diagnosis of the disease.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Phéochromocytome
/
Imagerie diagnostique
/
Tomodensitométrie
/
Tumeurs de la surrénale
/
Protéine Von Hippel-Lindau supresseur de tumeur
/
Génétique
/
Maladie de von Hippel-Lindau
/
Mutation
Type d'étude:
Etude diagnostique
/
Étude observationnelle
/
Étude pronostique
/
Étude de dépistage
Limites du sujet:
Adulte
/
Femelle
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Chinese Medical Sciences Journal
Année:
2009
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS