{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T17:52:17Z","timestamp":1711561937574},"reference-count":14,"publisher":"Instituto Nacional de Salud (Colombia)","issue":"3","license":[{"start":{"date-parts":[[2021,9,22]],"date-time":"2021-09-22T00:00:00Z","timestamp":1632268800000},"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":["biomedica"],"abstract":"<jats:p>Se presenta el caso cl\u00ednico de una paciente de 10 a\u00f1os diagnosticada con miocardiopat\u00eda dilatada, quien registr\u00f3 valores en el \u00edndice internacional normalizado (International Normalized Ratio, INR) superiores a 10 con la dosis est\u00e1ndar de acenocumarol, adem\u00e1s de otros valores que indicaban el estado incoagulable, lo que oblig\u00f3 a suspender y reiniciar el tratamiento en varias ocasiones. Despu\u00e9s de m\u00e1s de 30 d\u00edas de tratamiento, sorprendentemente se lograron los niveles esperados y estables en el INR con la mitad de a dosis recomendada para una paciente de su edad y peso.Se decidi\u00f3 hacer un an\u00e1lisis farmacogen\u00e9tico retrospectivo del caso mediante RT-PCR con sondas TaqMan\u2122 que incluy\u00f3 cinco polimorfismos de un solo nucle\u00f3tido y distinto grado de asociaci\u00f3n con la dosis-respuesta a los f\u00e1rmacos antivitam\u00ednicos K (AVK): rs2108622 (gen CYP4F2), rs9923231, rs7294 (gen VKORC1), rs1799853 y rs1057910 (gen CYP2C9). La paciente result\u00f3 ser homocigota para el rs9923231 (VKORC1) y heterocigota para el rs2108622 (CYP4F2). Se ha evidenciado a nivel nacional e internacional que este perfil gen\u00e9tico est\u00e1 fuertemente asociado con una necesidad de dosis menores de antivitam\u00ednicos K.En conclusi\u00f3n, el an\u00e1lisis farmacogen\u00e9tico confirm\u00f3 que la condici\u00f3n gen\u00e9tica de la paciente, la cual conlleva una baja expresi\u00f3n de la enzima VKORC1 (blanco terap\u00e9utico de los antivitam\u00ednicos K), hac\u00eda predecible la necesidad de una dosis menor a la establecida seg\u00fan los protocolos cl\u00ednicos recomendados por la Food and Drug Administration (FDA) y PharmGKB\u2122 para los f\u00e1rmacos cumar\u00ednicos.<\/jats:p>","DOI":"10.7705\/biomedica.5840","type":"journal-article","created":{"date-parts":[[2021,9,24]],"date-time":"2021-09-24T16:26:36Z","timestamp":1632500796000},"page":"403-408","update-policy":"http:\/\/dx.doi.org\/10.7705\/crossmark","source":"Crossref","is-referenced-by-count":2,"title":["An\u00e1lisis farmacogen\u00e9tico retrospectivo de una paciente pedi\u00e1trica en tratamiento anticoagulante: caso cl\u00ednico"],"prefix":"10.7705","volume":"41","author":[{"given":"Mirta","family":"Cavieres","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcelo","family":"Su\u00e1rez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriel","family":"Ver\u00f3n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis Abel","family":"Qui\u00f1ones","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nelson Miguel","family":"Varela","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"4444","published-online":{"date-parts":[[2021,9,22]]},"reference":[{"key":"105078","unstructured":"Organizaci\u00f3n Mundial de la Salud. 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