{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T02:51:49Z","timestamp":1773370309852,"version":"3.50.1"},"reference-count":18,"publisher":"Instituto Nacional de Salud (Colombia)","issue":"Sp. 1","license":[{"start":{"date-parts":[[2024,5,31]],"date-time":"2024-05-31T00:00:00Z","timestamp":1717113600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,5,31]],"date-time":"2024-05-31T00:00:00Z","timestamp":1717113600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["revistabiomedica.org"],"crossmark-restriction":false},"short-container-title":["Biomed."],"abstract":"<jats:p>El feocromocitoma es un tumor derivado de las c\u00e9lulas de la cresta neural con la capacidad de producir sustancias simpaticomim\u00e9ticas y, por ende, un cuadro cl\u00ednico particular. Causa menos del 1 % de los casos de hipertensi\u00f3n arterial sist\u00e9mica y su incidencia se estima entre 0,4 y 0,6 casos por 100.000 personas cada a\u00f1o, con una supervivencia media de siete a\u00f1os. De todos los tumores s\u00f3lidos, el feocromocitoma tiene un mayor componente gen\u00e9tico, que puede heredarse hasta en el 40 % de los casos. Una vez diagnosticada la enfermedad, se debe definir el tratamiento y el pron\u00f3stico, en parte condicionados por las variantes gen\u00e9ticas asociadas, en especial RET, SDHx, VHL y NF1.Se presenta el caso de una mujer joven con dolor abdominal e hipertensi\u00f3n arterial sist\u00e9mica, a quien se le diagnostic\u00f3 feocromocitoma. Al secuenciar el exoma, se identific\u00f3 una variante patog\u00e9nica extremadamente rara y de reciente descubrimiento: SDHA: c.1A&gt;C (p.Met1Leu). La paciente respondi\u00f3 adecuadamente al tratamiento quir\u00fargico y continu\u00f3 en seguimiento sin recurrencias.El abordaje diagn\u00f3stico de los pacientes con feocromocitoma comienza con la sospecha cl\u00ednica, seguida de la medici\u00f3n de determinados metabolitos en sangre y orina, y, finalmente, los estudios de imagenolog\u00eda. Los desarrollos tecnol\u00f3gicos actuales permiten la aplicaci\u00f3n de la medicina de precisi\u00f3n en este campo. En este caso de feocromocitoma, se identific\u00f3 un componente gen\u00e9tico importante que no solo afecta al paciente, sino tambi\u00e9n, a sus familiares. La tamizaci\u00f3n adecuada del caso \u00edndice permite identificar mutaciones y caracterizar mejor la enfermedad.<\/jats:p>","DOI":"10.7705\/biomedica.7152","type":"journal-article","created":{"date-parts":[[2024,7,30]],"date-time":"2024-07-30T15:40:41Z","timestamp":1722354041000},"page":"18-26","update-policy":"https:\/\/doi.org\/10.7705\/crossmark","source":"Crossref","is-referenced-by-count":2,"title":["S\u00edndrome de feocromocitoma-paraganglioma de tipo 5 como causa de hipertensi\u00f3n arterial en una paciente colombiana: reporte de caso","Pheochromocytoma\/paraganglioma type 5 syndrome as a cause of secondary hypertension in a Colombian patient: case report"],"prefix":"10.7705","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0706-0060","authenticated-orcid":false,"given":"Juan","family":"Morales","sequence":"first","affiliation":[{"name":"Departamento de Medicina Interna, Hospital Universitario del Valle, Universidad del Valle, Cali, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5914-0601","authenticated-orcid":false,"given":"Daniela","family":"Arturo","sequence":"additional","affiliation":[{"name":"Escuela de Ciencias B\u00e1sicas, Grupo de Investigaci\u00f3n en Enfermedades Cong\u00e9nitas del Metabolismo, Universidad del Valle, Cali, Colombia"},{"name":"Escuela de Ciencias B\u00e1sicas, Grupo de Investigaci\u00f3n en Enfermedades Cong\u00e9nitas del Metabolismo, Universidad del Valle, Cali, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-3270-2750","authenticated-orcid":false,"given":"Miguel","family":"Folleco","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Endocrinolog\u00eda, Cl\u00ednica Imbanaco, Cali, Colombia"},{"name":"Secci\u00f3n de Endocrinolog\u00eda, Cl\u00ednica Imbanaco, Cali, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"4444","published-online":{"date-parts":[[2024,5,31]]},"reference":[{"key":"135301","doi-asserted-by":"crossref","unstructured":"Dahia PL. 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Clinical characterization of the pheochromocytoma and paraganglioma susceptibility genes SDHA, TMEM127, MAX, and SDHAF2 for gene-informed prevention. JAMA Oncol. 2017;3:1204-12. https:\/\/doi.org\/10.1001\/jamaoncol.2017.0223","DOI":"10.1001\/jamaoncol.2017.0223"},{"key":"135308","doi-asserted-by":"crossref","unstructured":"N\u00f6lting S, Ullrich M, Pietzsch J, Ziegler CG, Eisenhofer G, Grossman A, et al. Current management of pheochromocytoma\/paraganglioma: A guide for the practicing clinician in the era of precision medicine. Cancers. 2019;11:1505. https:\/\/doi.org\/10.3390\/cancers11101505","DOI":"10.3390\/cancers11101505"},{"key":"135309","doi-asserted-by":"crossref","unstructured":"Lenders JW, Duh Q-Y, Eisenhofer G, Gimenez-Roqueplo A-P, Grebe SK, Murad MH, et al. Pheochromocytoma and paraganglioma: An endocrine society clinical practice guideline. 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