Alteraciones inmunológicas, hematológicas y genéticas asociadas al síndrome de Down
Palabras clave:
Síndrome de Down, trisomía, cromosoma, genética.Resumen
El síndrome de Down (SD), causado por una aneuploidía del cromosoma 21 que puede originarse por una trisomía completa o parcial, está posicionado actualmente como la alteración cromosómica y la causa de discapacidad intelectual de origen genético más prevalente a nivel mundial. Esta condición compromete al organismo de manera variable debido a que no existe un factor de riesgo único en su origen, sino que cada uno de los factores asociados, como la edad avanzada y la obesidad materna, contribuye en diferente medida a la predisposición para desarrollar la trisomía 21. En el SD se observan alteraciones prácticamente en todos los sistemas del cuerpo humano, ya que, debido a esa copia adicional creada, se compromete de manera grave el desarrollo físico y cerebral, lo cual genera múltiples afecciones sistémicas; entre ellas destacan las alteraciones hematológicas e inmunológicas, que en su mayoría están relacionadas con mutaciones genéticas adicionales heredadas o adquiridas. Dentro de las manifestaciones más prevalentes asociadas al SD se encuentran la hipoplasia tímica, la disfunción de la médula ósea y una predisposición aumentada a neoplasias como la leucemia mieloide aguda (LMA).
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Derechos de autor 2026 Elsa Sofia Castillo-Ortega, Miguel Ángel Castaño-Morales
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