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Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain
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  • Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain
  • Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain
저자명
Park. Ki-Bum,Han. Kyung-Ream,Lee. Jae-Woo,Kim. Seung-Ho,Kim. Do-Wan,Kim. Chan,Ko. Jung-Min
간행물명
The Korean journal of pain
권/호정보
2010년|23권 3호|pp.207-210 (4 pages)
발행정보
대한통증학회
파일정보
정기간행물|ENG|
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이 논문은 한국과학기술정보연구원과 논문 연계를 통해 무료로 제공되는 원문입니다.
서지반출

기타언어초록

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.