Reporte de caso de feocromocitoma bilateral asociado a mutación del gen TMEM127. Primer caso chileno / Bilateral pheochromocytoma associates with TMEM127 gene mutation. Report of one case
Rev. med. Chile
;
150(8): 1115-1118, ago. 2022. ilus, tab
Article
Dans Espagnol
| LILACS
| ID: biblio-1431865
ABSTRACT
Up to 40% of Pheochromocytoma/paraganglioma syndromes are associated with germline mutations. Therefore, they are considered familial and heritable. We report a 65 year old woman with hypertension, bilateral adrenal nodules found in the CT scan and elevated urinary metanephrines. Her genetic testing showed a c.117_120delGTCT TMEM127 gene mutation. She was subjected to a laparoscopic bilateral adrenal excision. After five years of follow up, no recurrence of the disease has been recorded.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Phéochromocytome
/
Tumeurs de la surrénale
Limites du sujet:
Adulte très âgé
/
Femelle
/
Humains
Pays comme sujet:
Amérique du Sud
/
Chili
langue:
Espagnol
Texte intégral:
Rev. med. Chile
Thème du journal:
Médicament
Année:
2022
Type:
Article
Pays d'affiliation:
Chili
Institution/Pays d'affiliation:
Pontificia Universidad Católica de Chile/CL
/
Universidad San Sebastián/CL
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