Chaperonas farmacológicas. Nueva alternativa terapéutica para la nefropatía por enfermedad de Fabry en Argentina

  • Sebastián Jaurretche Cátedra de Biofísica y Fisiología Humana, Instituto Universitario Italiano de Rosario, Rosario, Santa Fe, Argentina
Palabras clave: enfermedad de Fabry; biomarcadores; tratamiento farmacológico; Argentina

Resumen

La enfermedad de Fabry (EF, OMIM 301500) es una enfermedad por depósito lisosomal (EDL). Este grupo de enfermedades incluye al menos cincuenta entidades  hereditarias de baja frecuencia, originadas por un error congénito del metabolismo, secundario a un defecto génico específico, que conduce a una deficiencia en la actividad de una o varias enzimas lisosomales. El déficit de actividad enzimática produce el acúmulo anormal de productos no metabolizados, primariamente en los lisosomas celulares.

La EF es una EDL causada por la actividad deficiente de la enzima α-galactosidasa-A (αGal-A, EC 3.2.1.22), lo que produce la acumulación de glicoesfingolípidos complejos, principalmente globotriaosilceramida (Gb3) (Galα1→4Galβ1→4Glcβ→Cer, Gb3) y sus metabolitos asociados, en los lisosomas, otros compartimientos celulares y el plasma de manera progresiva y multisistémica.

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Publicado
2020-08-27
Cómo citar
1.
Jaurretche S. Chaperonas farmacológicas. Nueva alternativa terapéutica para la nefropatía por enfermedad de Fabry en Argentina. Rev Nefrol Dial Traspl. [Internet]. 27 de agosto de 2020 [citado 28 de marzo de 2024];40(1):51-7. Disponible en: http://www.revistarenal.org.ar/index.php/rndt/article/view/509
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