Síndromes de falla medular hereditarios: etiología, fisiopatología, diagnóstico y tratamiento

  • Moisés Fiesco Roa Instituto Nacional de Pediatria Universidad Nacional Autónoma de México
  • Angélica Monsivais Orozco Instituto Nacional de Pediatria
  • Alfredo Rodriguez Instituto Nacional de Pediatria
  • Sara Frías Instituto Nacional de Pediatria Universidad Nacional Autónoma de México
  • Benilde Garcia de Teresa Instituto Nacional de Pediatria

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.

Biografía del autor/a

Moisés Fiesco Roa, Instituto Nacional de Pediatria Universidad Nacional Autónoma de México

Programa de Maestría y Doctorado en Ciencias Médicas, Odontológicas y de la Salud, UNAM

Laboratorio de Citogenética, Departamento de Genética Humana, INP

Angélica Monsivais Orozco, Instituto Nacional de Pediatria
Médico Adscrito al Servicio de Hematología, INP
Alfredo Rodriguez, Instituto Nacional de Pediatria
Investigador en Ciencias Médicas B, Laboratorio de Citogenética, Departamento de Genética Humana, INP
Sara Frías, Instituto Nacional de Pediatria Universidad Nacional Autónoma de México

Investigador en Ciencias Médicas F, Laboratorio de Citogenética, Departamento de Genética Humana, INP

Instituto de Investigaciones Biomédicas, UNAM

Benilde Garcia de Teresa, Instituto Nacional de Pediatria

Médico Genetista

Ayudante de investigador en Ciencias Médicas C

Laboratorio de Citogenetica, Departamento de Genetica Humana

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Publicado
2021-07-08
Cómo citar
Fiesco Roa, M., Monsivais Orozco, A., Rodriguez, A., Frías, S., & Garcia de Teresa, B. (2021). Síndromes de falla medular hereditarios: etiología, fisiopatología, diagnóstico y tratamiento. Acta Pediátrica De México, 42(4), 192-207. https://doi.org/10.18233/APM42No4pp192-2072110
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Artículo de revisión