Vega-Vega O, Pérez-GutiérreAz, Correa-Rotter R

Idioma: Español
Referencias bibliográficas: 59
Paginas: 314-321
Archivo PDF: 143.32 Kb.

RESUMEN

La enfermedad de Fabry-Anderson es una patología lisosomal de depósito, secundaria a la deficiencia de la enzima |α-galactosidasa. Este defecto enzimático ocasiona la acumulación progresiva de glucoesfingolípidos en el interior de diversos tipos celulares. Generalmente, la deficiencia enzimática es completa, lo que ocasiona participación multisistémica, con afección predominante en corazón, riñón, sistema nervioso central y periférico. Sin embargo, en algunos pacientes la deficiencia enzimática puede ser parcial, lo cual se traduce en variantes de la expresión clínica (variante renal y/o cardiaca), lo cual contribuye a la dificultad en su diagnóstico y al desconocimiento de su epidemiología. En el presente artículo se hace una revisión de su epidemiología, el defecto metabólico de la enfermedad, las bases moleculares y de herencia; las variantes de la expresión clínica y la terapia de reemplazo enzimático.

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