Reporte de caso de feocromocitoma bilateral asociado a mutación del gen TMEM127. Primer caso chileno

José F. Delgado; María Javiera E. Pérez; Dasha Delgado; Carlos Lagos; René Baudrand; Thomas Uslar

doi:10.4067/S0034-98872022000801115

Reporte de caso de feocromocitoma bilateral asociado a mutación del gen TMEM127. Primer caso chileno

José F. Delgado^*, María Javiera E. Pérez, Dasha Delgado, Carlos Lagos, René Baudrand, Thomas Uslar

^*Autor correspondiente de este trabajo

Producción científica: Contribución a una revista › Artículo › revisión exhaustiva

Resumen

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.

Título traducido de la contribución	Bilateral pheochromocytoma associates with TMEM127 gene mutation. Report of one case
Idioma original	Español
Páginas (desde-hasta)	1115-1118
Número de páginas	4
Publicación	Revista Medica de Chile
Volumen	150
N.º	8
DOI	https://doi.org/10.4067/S0034-98872022000801115
Estado	Publicada - 2022

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© 2022 Sociedad Medica de Santiago. All rights reserved.

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Medicina General

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10.4067/S0034-98872022000801115

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title = "Reporte de caso de feocromocitoma bilateral asociado a mutaci{\'o}n del gen TMEM127. Primer caso chileno",

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.",

keywords = "Adrenal Incidentaloma, human, Mutation, Pheochromocytoma, TMEM127 protein",

author = "Delgado, {Jos{\'e} F.} and P{\'e}rez, {Mar{\'i}a Javiera E.} and Dasha Delgado and Carlos Lagos and Ren{\'e} Baudrand and Thomas Uslar",

year = "2022",

month = aug,

doi = "10.4067/S0034-98872022000801115",

language = "Spanish",

volume = "150",

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AU - Delgado, José F.

AU - Pérez, María Javiera E.

AU - Delgado, Dasha

AU - Lagos, Carlos

AU - Baudrand, René

AU - Uslar, Thomas

PY - 2022/8

Y1 - 2022/8

N2 - 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.

AB - 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.

KW - Adrenal Incidentaloma

KW - human

KW - Mutation

KW - Pheochromocytoma

KW - TMEM127 protein

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JO - Revista Medica de Chile

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Reporte de caso de feocromocitoma bilateral asociado a mutación del gen TMEM127. Primer caso chileno

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