Rendimiento del exoma para el diagnóstico temprano de las enfermedades raras genéticas en pacientes pediátricos. Revisión Narrativa

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Martha Cecilia Piñeros Fernández

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Introducción: La definición establecida por  la  Organización Mundial de la Salud de  las enfermedades raras es: «aquellas que afectan  a menos de 5 a 7 individuos en 10.000 y,  aproximadamente del 6 % al 8 % de la población mundial» Temática: la categoría fenotípica más común de los casos pediátricos y de adultos son  los trastornos neurológicos en estudios realizados en diferentes países. En enfermedades raras como son los  trastornos  de las plaquetas e inmunodeficiencias el rendimiento  diagnóstico del exoma se aproxima al  25%  reportado para  enfermedades genéticas de presentación común. Los datos de rendimiento diagnóstico del exoma  se encuentran por   encima del 50% en  enfermedades  neurológicas pediátricas  tales como enfermedades neuromusculares,  trastornos neurometabólicos y paraplejía  espástica hereditaria y del 50%  en miocardiopatías dilatadas hereditarias. Conclusión: los avances tecnológicos como la secuenciación de nueva generación han facilitado significativamente el diagnóstico y el descubrimiento de genes nuevos  en pacientes con enfermedades genéticas raras, especialmente con la introducción de la secuenciación del exoma.

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Piñeros Fernández, M. C. (2023). Rendimiento del exoma para el diagnóstico temprano de las enfermedades raras genéticas en pacientes pediátricos. Revisión Narrativa. Pediatría, 56(2), e230. https://doi.org/10.14295/rp.v56i2.230
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