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

dc.creatorUniversidad San Sebastián
dc.creatorUniversidad San Sebastián
dc.creatorUniversidad San Sebastián
dc.creatorUniversidad San Sebastián
dc.creatorUniversidad San Sebastián
dc.creatorUniversidad San Sebastián
dc.creatorDelgado, José F.
dc.creatorPérez, María Javiera E.
dc.creatorDelgado, Dasha
dc.creatorLagos, Carlos
dc.creatorBaudrand, René
dc.creatorUslar, Thomas
dc.date.accessioned2023-05-31T19:30:03Z
dc.date.accessioned2023-09-25T13:03:41Z
dc.date.available2023-05-31T19:30:03Z
dc.date.available2023-09-25T13:03:41Z
dc.date.created2023-05-31T19:30:03Z
dc.date.issued2022-08
dc.identifier0034-9887
dc.identifierhttps://repositorio.uss.cl/handle/uss/8267
dc.identifier10.4067/S0034-98872022000801115
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8805407
dc.description.abstractUp 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.
dc.languagespa
dc.relationRevista Medica de Chile
dc.titleReporte de caso de feocromocitoma bilateral asociado a mutación del gen TMEM127. Primer caso chileno
dc.titleBilateral pheochromocytoma associates with TMEM127 gene mutation. Report of one case
dc.typeArtículo


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