Síndromes de falla medular hereditarios: etiología, fisiopatología, diagnóstico y tratamiento
Resumen
Los síndromes de falla medular hereditarios son un grupo heterogéneo de enfermedades genéticas debidas a variantes patogénicas en genes relacionados con la hematopoyesis. Los estudios de análisis genómico han permitido delimitar, al menos, 13 síndromes de falla medular hereditarios debidamente caracterizados. El fenotipo de estas entidades es un espectro que va desde críptico, hasta padecimientos con un cuadro clínico muy evidente. Además, pueden cursar con manifestaciones extramedulares, como cáncer o alteraciones funcionales y del desarrollo. Este tipo de padecimientos requiere un alto índice de sospecha, que debe plantearse ante cualquier paciente con alteraciones en la hematopoyesis, incluso si no hay manifestaciones extramedulares o éstas no son evidentes. Los síndromes de falla medular hereditarios son enfermedades complejas cuyo proceso diagnóstico y tratamiento requiere de un equipo interdisciplinario de especialistas, como los que se encuentran en centros de atención de tercer nivel. En esta revisión se exponen las características etiológicas, fisiopatológicas, clínicas y paraclínicas de los principales síndromes de falla medular hereditarios.
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