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Guía para el diagnóstico, evaluación y tratamiento de la enfermedad de Fabry

Pablo Radillo-Díaz

Resumen


La enfermedad de Fabry es poco frecuente y aún desconocida para gran parte de la población general y médica. Presenta grandes dificultades para el diagnóstico; al establecerse éste en forma tardía, los daños son ya importantes y generalmente irreversibles. En años recientes se ha incrementado el conocimiento sobre la enfermedad y en la última década, el desarrollo de una terapia específica ha modificado sensiblemente el pronóstico de estos pacientes. En 2008 se formó el Grupo Mexicano de Especialistas en Enfermedad de Fabry, integrado por médicos mexicanos capacitados para el manejo de estos enfermos; el Grupo decidió desarrollar la presente guía para el diagnóstico, evaluación y tratamiento, con el fin de ampliar el conocimiento del padecimiento en nuestro país y homologar los criterios de manejo.

 


Palabras clave


Enfermedad de Fabry; Angioqueratoma; Córnea Verticillata; Enfermedades por Almacenamiento Lisosomal

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Referencias


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