Terapia de reemplazo enzimático en la Enfermedad de Fabry: la dosis es importante

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Juan Manuel Politei
Andrea B. Schenone
Consuelo Durand
Alberto Ortiz

Resumen

La enfermedad de Fabry es una enfermedad rara ligada al X consecuencia de la deficiencia de α-galactosidasa A lisosomal, lo que genera un depósito excesivo de glicoesfingolípidos, predominantemente globotriaosilceramida (Gl3) y mortalidad de causa renal cardíaca y neurológica. El tratamiento actual consiste en la terapia de reemplazo enzimático, lo que intenta reemplazar por vía intravenosa la enzima deficiente. Existen en el mercado europeo y latinoamericano dos formulaciones de agalsidasa: agalsidasa alfa y agalsidasa beta, lo que permite al médico elegir el tratamiento. Sin embargo, la Food and Drug Administration en Estados Unidos rechazó aprobar la agalsidasa alfa. La diferencia fundamental entre agalsidasa alfa y agalsidasa beta es la dosis autorizada: 0,2 mg/kg y 1 mg/kg cada dos semanas respectivamente. Durante años esta diferencia tan grande de dosis sorprendió a los clínicos. Sin embargo varios estudios recientes sugieren que hay un efecto dosis-respuesta y que para algunos pacientes la dosis de 0,2 mg/kg cada dos semanas puede ser insuficiente. Sin embargo, no existen herramientas que permitan predecir que pacientes van a necesitar una dosis más alta para detener o enlentecer la progresión de la enfermedad. En esta revisión resumimos el estado actual del conocimiento sobre el impacto Tratamiento en la enfermedad de Fabry de las diferentes dosis y su eficacia en tratamiento de la enfermedad de Fabry.

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1.
Politei JM, Schenone AB, Durand C, Ortiz A. Terapia de reemplazo enzimático en la Enfermedad de Fabry: la dosis es importante. Rev Nefrol Dial Traspl. [Internet]. 26 de abril de 2017 [citado 20 de octubre de 2021];35(4):220-8. Disponible en: https://www.revistarenal.org.ar/index.php/rndt/article/view/45
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