보인자 파브리병 환자에서 발생한 허혈뇌졸중
Ischemic Stroke in a Patient with Heterozygote Fabry's Disease
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초록
It is uncommon for Fabry's disease (FD) patient to present with an isolated ischemic stroke without other typical symptoms or signs of FD. A 48-year-old woman presented with recurrent limb weakness and her brain magnetic resonance imaging revealed multiple ischemic brain lesions. Ten years ago, the patient had been diagnosed with heterozygote FD by the genetic test, but she had not shown any typical symptoms or sign of FD so far. Isolated organ involvement could occur in heterozygote FD.
Abstract
It is uncommon for Fabry's disease (FD) patient to present with an isolated ischemic stroke without other typical symptoms or signs of FD. A 48-year-old woman presented with recurrent limb weakness and her brain magnetic resonance imaging revealed multiple ischemic brain lesions. Ten years ago, the patient had been diagnosed with heterozygote FD by the genetic test, but she had not shown any typical symptoms or sign of FD so far. Isolated organ involvement could occur in heterozygote FD.
참고문헌 (9)
- El-Abassi R, "Fabry's disease", J Neurol Sci, 344, pp.5~19 (2014)
- Germain DP, "Fabry disease", Orphanet J Rare Dis, 5, pp.30~ (2010)
- Ishii S, "Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease", Biochem Biophys Res Commun, 197, pp.1585~1589 (1993)
- 최진호, "Short-Term Efficacy of Enzyme Replacement Therapy in Korean Patients with Fabry Disease", Journal of Korean Medical Science, 23(2), pp.243~250 (2008), 대한의학회
- Sims K, "Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events : natural history data from the Fabry Registry", Stroke, 40, pp.788~794 (2009)
- Schiffmann R, "Enzyme replacement therapy in Fabry disease : a randomized controlled trial", JAMA, 285, pp.2743~2749 (2001)
- Reisin R, "Time delays in the diagnosis and treatment of Fabry disease", Int J Clin Pract, 71 (2017)
- Eng CM, "Fabry disease : guidelines for the evaluation and management of multi-organ system involvement", Genet Med, 8, pp.539~548 (2006)
- "Agalsidase alfa 3.5mg" (2016)[URL]