El primer caso de feocromocitoma
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Palabras clave

Feocromocitoma
paraganglioma
metanefrinas
Pheochromocytoma
metanephrines
multiple endocrine neoplasia
neoplasia endocrina múltiple

Cómo citar

Román González, A., Builes Barrera, C. A., & Gutiérrez, J. (2017). El primer caso de feocromocitoma. Revista Colombiana De Endocrinología, Diabetes &Amp; Metabolismo, 3(2), 54–58. https://doi.org/10.53853/encr.3.2.33

Resumen

El feocromocitoma y el paraganglioma son tumores neuroendocrinos derivados de las células cromafines. El feocromocitoma está ubicado en la médula suprarrenal y el paraganglioma en los paraganglios. Esta enfermedad tiene un componente genético importante. Se considera infrecuente. En este artículo se presenta la historia del primer paciente reportado con feocromocitoma. Se trata de una mujer de 18 años alemana con palpitaciones, taquicardia, retinopatía hipertensiva, constipación y crisis de pánico que falleció en el Hospital de Friburgo de Brisgovia, en Alemania. La autopsia demostró la presencia de tumores adrenales bilaterales, 120 años después se confirmó la presencia de mutaciones en el proto-oncogen RET y los familiares de la paciente tenían feocromocitoma y carcinoma medular de tiroides. El primer caso conocido de feocromocitoma fue bilateral y secundario a una neoplasia endocrina múltiple tipo 2.

Abstract

Pheochromocytoma and paraganglioma are neuroendocrine tumors arising from chromafin cells. Pheochromocytoma is located in the adrenal medulla and paraganglioma are located in the paraganglioma. This disease has a strong genetic component. It is a very rare disease. In this manuscript, the history of the first known report of pheochromocytoma is presented. An18-year-old woman from Germany presents with palpitations, tachycardia, hypertensive retinopathy, constipation and panic attacks. The patient died at the Freiburg Hospital in Germany. The autopsy showed the presence of bilateral adrenal tumor. A mutation in the proto-oncogen RET was demonstrated 120 years later. Relatives of the patient had pheochromocytoma and medullary thyroid carcinoma. The first known case of pheochromocytoma had bilateral disease secondary to multiple endocrine neoplasia type 2.

https://doi.org/10.53853/encr.3.2.33
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Citas

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