Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa.
Neurol Sci
; 40(7): 1453-1455, 2019 Jul.
Article
en En
| MEDLINE
| ID: mdl-30778879
ABSTRACT
Pompe disease is a metabolic myopathy, due to deficiency of alpha glucosidase, with a wide clinical spectrum. Enzyme replacement therapy is the only available treatment to improve morbidity and mortality, especially in infantile-onset form. However, some patients experience infusion-associated reactions, which may restrict their access to this treatment. We report on two patients (respectively 12 and 3 months old) with infantile-onset Pompe disease and severe cardiomyopathy, that presented with severe reactions during infusion of enzyme replacement therapy and were successfully desensitized with a new individualized protocol. Our protocol, using microdilution and a premedication with antihistamines, corticosteroids, and tranexamic acid, seems safe and effective and it may allow the continuation of therapy in Pompe patients resulting in the reduction of morbidity and mortality related to this disease.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Enfermedad del Almacenamiento de Glucógeno Tipo II
/
Terapia de Reemplazo de Hormonas
/
Alfa-Glucosidasas
Tipo de estudio:
Guideline
Límite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Neurol Sci
Asunto de la revista:
NEUROLOGIA
Año:
2019
Tipo del documento:
Article
País de afiliación:
Italia