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Academia Mexicana de Neurología, A.C.

2007, Número 3

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Rev Mex Neuroci 2007; 8 (3)


Enfermedad de Gaucher neuronopática tipo III. Revisión de la literatura y presentación de un caso tratado con enzima recombinante humana

Llamosa GVGL, Navarrete MJI, Rivera SI, Vicuña GRM

Idioma: Español
Referencias bibliográficas: 36
Paginas: 261-273
Archivo PDF: 346.99 Kb.


RESUMEN

Antecedentes: La enfermedad de Gaucher es el padecimiento lisosomal más frecuente. Es un defecto hereditario autosómico recesivo del metabolismo de los glucoesfingolípidos. Se debe a la deficiencia de glucosilceramidasa, que conduce a la acumulación de glusosilceramida (glucocerebrósidos), principalmente en las células del sistema monocitomacrófago, dando manifestaciones clínicas por depósito en distintos tejidos y por la activación crónica de los macrófagos. Objetivo: Revisar la literatura reciente sobre la forma neuropática crónica de esta enfermedad y su tratamiento con la enzima recombinante humana, así como presentar un caso a propósito. Material y métodos: Revisión de la literatura mediante Ovid y obtención de los artículos completos relacionados. Presentación del caso clínico, hallazgos de laboratorio y de estudios histopatológicos. Conclusión: Su detección oportuna es muy importante para evitar daño a diferentes órganos, ya que se cuenta en la actualidad con la enzima recombinante humana.


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