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
in Es
| LILACS
| ID: biblio-1431865
Responsible library:
CL126.2
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
LILACS
Main subject:
Pheochromocytoma
/
Adrenal Gland Neoplasms
Limits:
Aged
/
Female
/
Humans
Country/Region as subject:
America do sul
/
Chile
Language:
Es
Journal:
Rev. med. Chile
Journal subject:
MEDICINA
Year:
2022
Document type:
Article
Affiliation country:
Country of publication: