Palabras clave
Activación del Complemento
microangiopatía trombótica
genética
enfermedades huérfanas
Cómo citar
Resumen
El síndrome hemolítico urémico atípico es una microangiopatía trombótica caracterizada por anemia hemolítica, trombocitopenia y lesión renal aguda, asociada con la activación desregulada del complemento. Su prevalencia global es de 2,4 a 9,4 por millón entre individuos menores de 20 años. Esta revisión de tema tiene como objetivo sintetizar la información actual más importante acerca del síndrome hemolítico urémico atípico a nivel genético. Para esto, se realizó una búsqueda de la literatura actual disponible sobre el síndrome, haciendo especial énfasis en las alteraciones genéticas relacionadas con el mismo, en las bases de datos MedLine (PubMed), EMBASE, Lilacs y Science Direct durante julio y agosto
de 2024. Se concluye finalmente que el síndrome está asociado principalmente con mutaciones en genes que codifican proteínas reguladoras y/o activadoras del complemento, y que su identificación temprana, un tratamiento adecuado y un manejo multidisciplinario son cruciales para mejorar el pronóstico de los pacientes.
Citas
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