Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain
The Korean Journal of Pain
;
: 207-210, 2010.
Artículo
en Inglés
| WPRIM
| ID: wpr-25619
ABSTRACT
Fabry disease is an X-linked lysosomal disease caused by deficiency of alpha-galactosidase, in which early diagnosis may be missed due to the wide variety of clinical symptoms presenting during disease progression. A 13 year-old boy visited our pain clinic complaining of pricking and burning pain in the toe tips of both feet. Continuous epidural infusion for pain management was performed because of oral analgesics ineffectiveness. The patient underwent alpha-galactosidase A (GLA) enzyme analysis based on the clinical impression of Fabry disease from pain with a peripheral neuropathic component and history of anhidrosis. He was diagnosed with Fabry disease after confirming mutation of the GLA gene through a screening test of GLA activity. Enzyme replacement therapy was initiated and pain was tolerated with oral analgesics.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Quemaduras
/
Dedos del Pie
/
Tamizaje Masivo
/
Enfermedad de Fabry
/
Alfa-Galactosidasa
/
Clínicas de Dolor
/
Progresión de la Enfermedad
/
Diagnóstico Precoz
/
Terapia de Reemplazo Enzimático
/
Manejo del Dolor
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
/
Estudio de tamizaje
Límite:
Humanos
Idioma:
Inglés
Revista:
The Korean Journal of Pain
Año:
2010
Tipo del documento:
Artículo
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