Hernández-Martínez A

Idioma: Español
Referencias bibliográficas: 30
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RESUMEN

La anemia de Fanconi es una enfermedad hereditaria con patrón de transmisión autosómico recesivo, asociada con múltiples mutaciones en al menos 20 genes cuyos productos forman parte de los mecanismos de reparación del material genético en las células. Estas mutaciones generan inestabilidad cromosomal que resulta en manifestaciones clínicas muy diversas, las más características son la insuficiencia de médula ósea, anormalidades congénitas y alta predisposición a neoplasias. El diagnóstico clínico de este trastorno es difícil, no sólo por su heterogeneidad, sino también porque es poco sospechado, se necesitan pruebas de laboratorio específicas para poder confirmarlo. De la misma manera, el tratamiento de la enfermedad es difícil porque está enfocado principalmente al manejo de los síntomas y a la prevención de afecciones asociadas, por lo que la anemia de Fanconi debe ser conocida para poder dar a los pacientes el seguimiento correcto.

REFERENCIAS (EN ESTE ARTÍCULO)

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