Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain
The Korean Journal of Pain
;
: 207-210, 2010.
Artigo
em Inglês
| 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Queimaduras
/
Dedos do Pé
/
Programas de Rastreamento
/
Doença de Fabry
/
Alfa-Galactosidase
/
Clínicas de Dor
/
Progressão da Doença
/
Diagnóstico Precoce
/
Terapia de Reposição de Enzimas
/
Manejo da Dor
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
/
Estudo de rastreamento
Limite:
Humanos
Idioma:
Inglês
Revista:
The Korean Journal of Pain
Ano de publicação:
2010
Tipo de documento:
Artigo
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