Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain
| Autor: | Jae Woo Lee, Seung Ho Kim, Jung Min Ko, Chan Kim, Do Wan Kim, Ki Bum Park, Kyung Ream Han |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2010 |
| Předmět: |
fabry disease
medicine.medical_specialty business.industry Disease progression Case Report Disease Enzyme replacement therapy Pain management medicine.disease Fabry disease anhidrosis Surgery Anesthesiology and Pain Medicine Pain Clinics acroparesthesia agalsidase beta Medicine Anhidrosis medicine.symptom business Burning Pain |
| Zdroj: | The Korean Journal of Pain |
| ISSN: | 2093-0569 2005-9159 |
| Popis: | Fabry disease is an X-linked lysosomal disease caused by deficiency of α-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 α-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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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