Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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형제에서 발견된 파브리병 2례

Two cases of Fabry disease identified in brothers

  • 조지은 (순천향대학교 의과대학 소아과학교실) ;
  • 홍용희 (순천향대학교 의과대학 소아과학교실) ;
  • 이양균 (순천향대학교 의과대학 재활의학과교실) ;
  • 유한욱 (울산대학교 의과대학 소아과학교실) ;
  • 이동환 (순천향대학교 의과대학 소아과학교실)
  • Cho, Ji Eun (Department of Pediatrics, College of Medicine SoonChunHyang University) ;
  • Hong, Yong Hee (Department of Pediatrics, College of Medicine SoonChunHyang University) ;
  • Lee, Yang Gyun (Physical Medicine & Rehabilitation, College of Medicine SoonChunHyang University) ;
  • Yoo, Han Wook (Department of Pediatrics, Asan Medical Center College of Medicine, University of Ulsan) ;
  • Lee, Dong Hwan (Department of Pediatrics, College of Medicine SoonChunHyang University)
  • 투고 : 2009.08.28
  • 심사 : 2009.10.08
  • 발행 : 2010.02.15
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초록

파브리병은 알파-갈락토시다아제(alpha galactosidase) A 효소에 위치하는 유전자 변이에 의한 글라이코스핑고리피드(glycospingolipid) 대사이상에 의한 질환으로 X-염색체와 연관된다. 말단 지각이상을 호소하던 12세 남자 환자와 증상이 미미한 그의 형에서 알파-갈락토시다아제 A 효소 활성도 측정과 유전자 변이 확인을 통하여 파브리병을 확진한 2례를 보고하고자 한다.

Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the ${\alpha}-galactosidase$ A (GLA) enzyme. We report two cases of Fabry disease in a 12-year-old boy who had acroparesthesia and in his elder brother with milder symptoms who were diagnosed by GLA activity assays and the presence of the GLA gene mutation.

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참고문헌

  1. McGovern MM, Desnick RJ. Lipidoses. In: Robert MK, Richard EB, Hal BJ, Bonita FS, editors. Nelson textbook of pediartics. 18th ed. Philadelphia: WB Saunders Co, 2004:593-600
  2. Masson C, Cisse I, Simon V, Insalaco P, Audran M. Fabry disease. Joint Bone Spine 2004;71:381-3 https://doi.org/10.1016/j.jbspin.2003.10.015
  3. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999;281:249-54 https://doi.org/10.1001/jama.281.3.249
  4. Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, Sillence DO, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 2007;30:184-92 https://doi.org/10.1007/s10545-007-0521-2
  5. Desnick RJ, Brady RO. Fabry disease in childhood. J Pediatr 2004;144(5 Suppl):20S-6S https://doi.org/10.1016/j.jpeds.2004.01.051
  6. Fabry H. Angiokeratoma corporis diffusum—Fabry disease: historical review from the original description to the introduction of enzyme replacement therapy. Acta Paediatrica 2002;91(439 Suppl):3S-5S https://doi.org/10.1111/j.1651-2227.2002.tb03102.x
  7. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry disease: ceramide trihexosidase deficiency. N Engl Med 1967;276:1163-7 https://doi.org/10.1056/NEJM196705252762101
  8. Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet A, Sly W, Valle D, Childs R, Kinzler K, editors. Metabloic and molecular bases of inherited disease. 8th ed. New York: Mcgraw Hill, 2001;3733-74
  9. Bishop DF, Kornreich R, Desnick RJ. Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region. Proc Natl Acad Sci USA 1988;85:3903-7 https://doi.org/10.1073/pnas.85.11.3903
  10. Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, Germain DP, et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry registry. Pediatr Res 2008;64:550-5 https://doi.org/10.1203/PDR.0b013e318183f132
  11. Zimmermann M. Pathobiology of neuropathic pain. Eur J Pharmacol 2001;429:23-37 https://doi.org/10.1016/S0014-2999(01)01303-6
  12. Ries M, Kim HJ, Zalewski CK, Mastroianni MA, Moore DF, Brady RO, et al. Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease. Brain 2007;130:143-50 https://doi.org/10.1093/brain/awl310
  13. Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS editors. Metabolic and molecular bases of inherited disease. 8th ed. New York: Mcgraw Hill, 2001:3733-74
  14. Schiffmann R. Fabry disease. Pharmacol Ther 2009;122:65-77 https://doi.org/10.1016/j.pharmthera.2009.01.003
  15. Pintos-Morell G, Beck M. Fabry disease in children and the effects of enzyme replacement treatment. Eur J Pediatr 2009;168:1355-63 https://doi.org/10.1007/s00431-009-0937-9
  16. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, et al. Safety and efficacy of recombinant human alphagalactosidase A-replacement therapy in Fabry's disease. N Engl J Med 2001;345:9-16 https://doi.org/10.1056/NEJM200107053450102
  17. Beer M, Weidemann F, Breuning F, Knoll A, Koeppe S, Machann W, et al. Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry's cardiomyopathy. Am J Cardiol 2006;97:1515-8 https://doi.org/10.1016/j.amjcard.2005.11.087
  18. Wraith JE, Tylki-Szymanska A, Guffon N, Lien YH, Tsimaratos M, Vellodi A, et al. Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J Pediatr 2008;152:563-70 https://doi.org/10.1016/j.jpeds.2007.09.007