Enfermedades por depósito Lisosomal en Reumatología. ¿Cuándo pensar en ellas?
Resumen
Las enfermedades de depósito lisosomal (EDL) comprenden un grupo heterogéneo de casi 50 trastornos que son causados por defectos genéticos en una hidrolasa ácida lisosomal, el receptor activador de la proteína, la proteína de membrana, o el transportador, causando la acumulación lisosomal de los sustratos que son específicos para cada trastorno. La acumulación es progresiva y en última instancia, causan el deterioro de la función celular y tisular. Muchos trastornos afectan al sistema nervioso central (SNC) y la mayoría de los pacientes tienen una disminución de la calidad de vida y aumento de la morbi-mortalidad. El diagnóstico debe ser establecido por ensayos de enzimas específicas y análisis de mutación. El objetivo de esta revisión es brindar una guía para pensar en estas enfermedades raras.
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