Actualización en Anemia de Fanconi: Bases Genéticas, Características Clínicas, Diagnóstico y Tratamiento
Resumen
La anemia de Fanconi es un trastorno hereditario autosómico recesivo, poco frecuente. Se asocia con al menos 22 genes y produce fragilidad cromosómica, lo que implica defectos en la reparación del ADN, que a su vez conlleva a la aparición de tumores sólidos y hematológicos, principalmente leucemia mieloide aguda. El estándar de oro para el diagnóstico es la prueba de fragilidad cromosómica donde se observan anomalías después de ser expuesto a diepoxibutano o a la mitomicina C. El tratamiento comúnmente utilizado es el trasplante de médula ósea, sin embargo, este se asocia con la aparición de otros tumores, por lo que ahora se estudian terapias génicas.
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Derechos de autor 2024 Adriana Ruiz Rodríguez, Diana Quiroz Ruiz
Esta obra está bajo licencia internacional Creative Commons Reconocimiento 4.0.
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