Korean Circulation Journal

  • 제47권2호
  • /
  • Pages.278-281
  • /
  • 2017
  • /
  • 1738-5520(pISSN)
  • /
  • 1738-5555(eISSN)
대한심장학회 (The Korean Society of Cardiology)
권호 표지
DOI QR코드

DOI QR Code

Identification of a Novel GLA Mutation (L206 P) in a Patient with Fabry Disease

  • Kim, Ji-Hoon (Division of Cardiology, Department of Internal Medicine, St. Vincent's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Kim, Gee-Hee (Division of Cardiology, Department of Internal Medicine, St. Vincent's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Park, Hoon-Suk (Division of Nephrology, Department of Internal Medicine, St. Vincent's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Choi, Jin-A (Department of Ophthalmology, St. Vincent's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Bae, Jung-Min (Department of Dermatology, St. Vincent's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Cho, Uiju (Department of Pathology, St. Vincent's Hospital, College of Medicine, The Catholic University of Korea)
  • 투고 : 2016.09.09
  • 심사 : 2016.10.07
  • 발행 : 2017.03.31
⟨ 이전 논문 다음 논문 ⟩

초록

We report a new ${\alpha}$-Galactosidase A ( ${\alpha}Gal-A$) mutation in a 39-year-old Korean born, male Fabry disease patient. Fabry disease is a devastating, progressive inborn error of metabolism caused by X-linked genetic mutations. In this case, the first clinical symptom to occur was in childhood consisting of a burning pain originating in the extremities then radiating inwards to the limbs. This patient also stated to have ringing in his ears, angiokeratomas on his trunk, and cornea verticillata. He visited an outpatient cardiologist due to intermittent and atypical chest discomfort at the age of 39. Electrocardiographic and echocardiographic examination showed left ventricular hypertrophy. A physical examination revealed proteinuria without hematuria. The patient's plasma ${\alpha}Gal-A$ activity was markedly lower than the mean value of the controls. After genetic counseling and obtaining written informed consent, we identified one hemizygous mutation in exon 4 of galactosidase alpha, c.617T>C (p.Leu206 Pro). He was eventually diagnosed as having Fabry disease.

키워드

참고문헌

  1. Germain DP. Fabry disease. Orphanet J Rare Dis 2010;5:30. https://doi.org/10.1186/1750-1172-5-30
  2. Branton MH, Schiffmann R, Sabnis SG, et al. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 2002;81:122-38. https://doi.org/10.1097/00005792-200203000-00003
  3. Umeda T, Hashimoto S, Noriyasu K, Takamura A, Fujisaki M, Eto Y. Identification of a novel GLA mutation (F69 L) in a Japanese patient with late-onset Fabry disease. Hum Genome Var 2015;2:15044. https://doi.org/10.1038/hgv.2015.44
  4. Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004;34:236-42. https://doi.org/10.1111/j.1365-2362.2004.01309.x
  5. Duve C. Exploring cells with a centrifuge. Science 1975;189:186-94. https://doi.org/10.1126/science.1138375
  6. Aerts JM, Groener JE, Kuiper S, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A 2008;105: 2812-7. https://doi.org/10.1073/pnas.0712309105
  7. Hopkin RJ, Bissler J, Banikazemi M, 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
  8. Wilcox WR, Oliveira JP, Hopkin RJ, et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 2008;93:112-28. https://doi.org/10.1016/j.ymgme.2007.09.013
  9. Schiffmann R, Warnock DG, Banikazemi M, et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 2009;24:2102-11. https://doi.org/10.1093/ndt/gfp031
  10. Naleschinski D, Arning K, Baron R. Fabry disease--pain doctors have to find the missing ones. Pain 2009;145:10-1. https://doi.org/10.1016/j.pain.2009.07.025
  11. 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
  12. Spada M, Pagliardini S, Yasuda M, et al. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 2006;79:31-40. https://doi.org/10.1086/504601
  13. Inoue T, Hattori K, Ihara K, Ishii A, Nakamura K, Hirose S. Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study. J Hum Genet 2013;58:548-52. https://doi.org/10.1038/jhg.2013.48
  14. Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006;8:539-48. https://doi.org/10.1097/01.gim.0000237866.70357.c6
  15. Lee K, Jin X, Zhang K, et al. A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology 2003;13:305-13. https://doi.org/10.1093/glycob/cwg034