지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2010.1
- 수록면
- 207 - 210 (4page)
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초록· 키워드
오류제보하기
Fabry disease is an X-linked lysosomal disease caused by deficiency of a-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 a-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. (Korean J Pain 2010; 23: 207-210)
목차
등록된 정보가 없습니다.
참고문헌 (20)
참고문헌 신청
Banikazemi M / 2007 / Agalsidase-beta therapy for advanced Fabry disease: a randomized trial / Ann Intern Med 146 : 77 ~ 86
Brady RO / 1967 / Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency / N Engl J Med 276 : 1163 ~ 1167
Eng CM / 2007 / Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry / J Inherit Metab Dis 30 : 184 ~ 192
Feriozzi S / 2009 / Survey Investigators. Agalsidase alfa slows the decline in renal function in patients with Fabry disease / Am J Nephrol 29 : 353 ~ 361
Hoffmann B / 2005 / Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey) / J
Brady RO / 1967 / Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency / N Engl J Med 276 : 1163 ~ 1167
Eng CM / 2007 / Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry / J Inherit Metab Dis 30 : 184 ~ 192
Feriozzi S / 2009 / Survey Investigators. Agalsidase alfa slows the decline in renal function in patients with Fabry disease / Am J Nephrol 29 : 353 ~ 361
Hoffmann B / 2005 / Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey) / J
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