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Instituto Nacional de Neurología y Neurocirugía

2022, Número 1

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Arch Neurocien 2022; 27 (1)


Enfermedad de Fabry y Enfermedad Vascular Cerebral

Pérez-Jovel E, Cano-Nigenda V, Manrique-Otero D, Castellanos-Pedroza E, Aguilar-Parra LG, Galnares-Olalde JA, Arauz A

Idioma: Español
Referencias bibliográficas: 40
Paginas: 29-38
Archivo PDF: 892.30 Kb.


RESUMEN

La enfermedad de Fabry (EF) es una patología genética ligada al cromosoma X (manifestada predominantemente en hombres y mujeres portadoras), causada por el déficit de la enzima α-galactosidasa A (también llamada ceramida trihexosidasa) que cataliza la escisión hidrolítica de la molécula terminal de galactosa de Gb3 (globotriaosilceramida). La EF se manifiesta fenotípicamente como metabolismo inadecuado de glucoesfingolípidos, afectando membranas celulares con traducción clínica multisistémica. Además de la enfermedad vascular cerebral (EVC) que afecta principalmente a pacientes jóvenes, otras complicaciones frecuentes son las renales, cardíacas y dermatológicas. Debido a su baja prevalencia, curso crónico e inespecífico, con manifestaciones en la vida adulta joven, es difícil sospecharla. Su confirmación diagnóstica requiere medición de la actividad de la enzima α -galactosidasa A, acumulación de globotriaosilceramida (Gb3), y/o determinación genética por mutación del gen GLA (gen para la galactosidasa Xq22.1). Al momento, no hay tratamiento curativo para la EF, pero sí tratamiento sintomático y para las secuelas que genera a nivel sistémico. El objetivo de esta revisión es brindar al clínico una perspectiva general de los aspectos epidemiológicos, fisiopatológicos y clínicos de la EF, con especial interés en su expresión como EVC, con la finalidad de sospecharla como diagnóstico diferencial en el momento de afrontarla.


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