双侧嗜铬细胞瘤与TMEM127基因突变有关。报告1例]。

IF 0.5 4区医学 Q3 MEDICINE, GENERAL & INTERNAL

Revista medica de Chile Pub Date : 2022-08-01 DOI:10.4067/S0034-98872022000801115

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

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引用次数: 0

摘要

高达40%的嗜铬细胞瘤/副神经节瘤综合征与种系突变有关。因此，它们被认为是家族性和遗传性的。我们报告一位65岁的女性高血压，在CT扫描中发现双侧肾上腺结节和尿肾上腺素升高。基因检测显示c.117_120delGTCT TMEM127基因突变。她接受了腹腔镜双侧肾上腺切除术。5年随访后，无复发记录。

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[Bilateral pheochromocytoma associates with TMEM127 gene mutation. Report of one case].

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.

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来源期刊

Revista medica de Chile 医学-医学：内科

CiteScore

1.20

自引率

16.70%

发文量

审稿时长

3-6 weeks

期刊介绍： La Revista Médica de Chile publica trabajos originales sobre temas de interés médico y de Ciencias Biomédicas, dando preferencia a los relacionados con la Medicina Interna y sus especialidades derivadas. Publicada mensualmente, desde 1872, por la Sociedad Médica de Santiago. La abreviatura de su título es Rev Med Chile, que debe ser usado en bibliografías, notas al pié de página, leyendas y referencias bibliográficas.