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2012, Número 1

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Acta Pediatr Mex 2012; 33 (1)


Terapia de reemplazo enzimático en una paciente con enfermedad de Gaucher tipo III

Carbajal-Rodríguez L, Gómez-González MF, Rodríguez-Herrera R, Zarco-Román J, Mora-Tiscareño MA

Idioma: Español
Referencias bibliográficas: 38
Paginas: 9-19
Archivo PDF: 605.75 Kb.


RESUMEN

La enfermedad de Gaucher (EG) es una esfingolipidosis heterogénea debida a mutaciones en el gen que codifica a la enzima lisosomal glucocerebrosidasa responsable de la hidrólisis de glucosilceramida con deposito de esta en las células fagociticas mononucleares.
Hay 3 tipos de la enfermedad: I Forma del Adulto o no neuronopatica; II Forma Infantil o neuronopatica aguda; III Forma Juvenil o neuronopatica subaguda (Subtipos a, b, c).
Desde 1991 la terapia de reemplazo enzimático ha reducido la morbimortalidad. El tipo I responde bien; no así el II. En el tipo III la respuesta es incompleta sin evidencia de que mejore la lesión neurológica aunque se puede utilizar para atenuar la lesión visceral y ósea. Se presenta el caso de una paciente con EG tipo III tratada con reemplazo enzimático, que ha tenido una respuesta moderadamente satisfactoria sobre todo en el área neurológica.


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