YAKHAK HOEJI (약학회지)

The Pharmaceutical Society of Korea (대한약학회)
권호 표지

Status of High Risk Group Fabry Disease Screening in Korea by Measuring Globotriacocylceramide in Body Fluid using Electrospray-MS/MS

탠덤매스에의한 체액 중 Globotriaocylceramide(Gb-3)의 측정을 이용한 한국인 고 위험도군에서의 파브리병 스크리닝

  • Yoon, Hye-Ran (Dept. of Biomedical & Analytical Chemistry, College of Pharmacy, Duksung Women's University)
  • 윤혜란 (덕성여자대학교 약학대학 생의약 분석실)
  • Received : 2010.12.17
  • Accepted : 2011.02.09
  • Published : 2011.02.28
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Abstract

Fabry disease (FD) is an X-linked inborn error of glycoshpingolipid metabolism resulting from mutation in the enzyme ${\alpha}$-galactosidase A gene. The disease is an X-linked lipid storage disorder and the lack of ${\alpha}$-Gal A causes an intracellular accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb-3). Measurement of Gb-3 in plasma has clinical importance for monitoring after enzyme replacement therapy for confirmed FD patients. Using electrospray ionization MS/MS we had developed, a simple, rapid, and highly sensitive analytical method for Gb-3 in plasma was used for the purpose of screening FD among high risk groups in Korean population. To date, no comprehensive results for FD screening have been performed and reported in Korea. We screened 1,100 outpatients from 13 hospitals (including clinics) to assess the incidence of FD among patients in high risk groups. For patients with borderline level amount of Gb-3, we repeated Gb-3 or performing complementary or confirmative assay with ${\alpha}$-Gal A activity and DNA mutaion analysis for confirmation diagnosis. Of 1,100 we diagnosed 3 FD with 2 classical type and 1 carrier (0.27%).

Keywords

References

  1. Desnick, R. J., Ioannou, Y. A., Ioannon, C. M., Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Kinzler, K. E. and Vogelstein, B. : The Metabolic and Molecular Bases of Inherited Disease. MeGraw-Hill, New York 3733-3774 (2001).
  2. Desnick, R. J. and Brady, R. O. : Fabry disease in childhood. J. Pediatr. 144, S20 (2004). https://doi.org/10.1016/j.jpeds.2004.01.051
  3. Whitfield, P. D., Calvin, J., Hogg, S., O'Driscoll, E., Halsall, D., Burling, K., Maguire, G., Wright, N., Cox, T. M., Meikle, P. J. and Deegan, P. B. : Monitoring enzyme replacement therapy in Fabry disease-role of urine globotriaosylceramide. J. Inherit. Metab. Dis. 28, 21 (2005). https://doi.org/10.1007/s10545-005-4415-x
  4. Boscaro, F., Pieraccini, G., la, Marca, G., Bartolucci, G., Luceri, C., Luceri, F. and Oneti, G. : Rapid quantitation of globotriaosylceramide in human plasma and urine a potential application for monitoring enzyme replacement therapy in Anderson-Fabry disease. Rapid Commun Mass Spectrom. 16, 1507 (2002). https://doi.org/10.1002/rcm.728
  5. Chien, Y. H., Olivova, P., Zhang, X. K., Chiang, S. C., Lee, N. C., Keutzer, J. and Hwu, W. L. : Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease. Mol. Genet. Metab. 102, 57 (2011). https://doi.org/10.1016/j.ymgme.2010.08.023
  6. Nelson, B. C., Roddy, T., Araghi, S., Wilkens, D., Thomas, J. J., Zhang, K., Sung, C. C. and Richards, S. M. : Globotriaosylceramide isoform profiles in human plasma by liquid chromatography-tandem mass spectrometry. J. Chromatogr. B 5, 805, 127 (2004).
  7. Mills, K., Morris, P., Lee, P., Vellodi, A., Waldek, S., Young, E. and Winchester, B. : Measurement of urinary CDH and CTH by tandem mass spectrometry in patientshemizygous and heterozygous for Fabry disease. J. Inherit. Metab. Dis. 28, 35 (2005). https://doi.org/10.1007/s10545-005-5263-4
  8. Boscaro, F., Pieraccini, G., la, Marca, G., Bartolucci, G., Luceri, C., Luceri, F. and Oneti, G. : Rapid quantitation of globotriaosylceramide in human plasma and urine: a potential application for monitoring enzyme replacement therapy in Anderson-Fabry disease. Rapid Commun Mass Spectrom. 16, 1507 (2002). https://doi.org/10.1002/rcm.728
  9. Mills, K. and Johnson, A. : Winchester Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectrometry. B. FEBS Lett. 515, 171 (2002). https://doi.org/10.1016/S0014-5793(02)02491-2
  10. Eng, C. M., Guffon, N., Wilcox, W. R., Germain, D. P., Lee, P., Waldek, S., Caplan, L., Linthorst, G. E. and Desnick, R. J. : International collaborative fabry disease study group. N. Engl. J. Med. 45, 9 (2001).
  11. Nakanishi, T., Funahashi, S., Funai, T., Hashimoto, T. and Shimizu, A. : Chemical diagnosis of Fabry's disease by fluorometric assay and fast atombombardment/mass spectrometry. Ann. Clin. Biochem. 28, 368 (1991). https://doi.org/10.1177/000456329102800410
  12. Caudron, E., Moliere, D., Zhou, J. Y., Prognon, P. and Germain, D. P. : Recent advances of Fabry disease screening for at risk population. Med. Sci. (Paris) 21, 480 (2005).
  13. Tanaka, M., Ohashi, T., Kobayashi, M., Eto, Y., Miyamura, N., Nishida, K., Araki, E., Itoh, K., Matsushita, K., Hara, M., Kuwahara, K., Nakano, T. and Yasumoto, N. : Nonoguchi H,Tomita K.Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients. Clin. Nephrol. 64, 281 (2005). https://doi.org/10.5414/CNP64281
  14. Hoffmann, B., Georg, Koch, H., Schweitzer-Krantz, S., Wendel, U. and Mayatepek, E. : Deficient alpha-galactosidase A activity in plasma but no Fabry disease-a pitfall in diagnosis. Clin. Chem. Lab. Med. 43, 1276 (2005).
  15. Zeidner, K. M., Desnick, R. J. and Ioannou, Y. A. : Quantitative determination of globotriaosylceramide by immunodetection of glycolipid-bound recombinant verotoxin B subunit. Anal. Biochem. 267, 104 (1999). https://doi.org/10.1006/abio.1998.2966
  16. Ohshima, T., Murray, G. J., Swaim, W. D., Longenecker, G., Quirk, J. M., Cardarelli, C. O., Sugimoto, Y., Pastan, I., Gottesman, M. M., Brady, R. O. and Kulkarni, A. B. : alpha- Galactosidase A deficient mice: a model of Fabry disease. Proc. Natl. Acad. Sci. USA 94, 2540 (1997). https://doi.org/10.1073/pnas.94.6.2540
  17. Hoffmann, B. and Mayatepek, E. : Neurological manifestations in lysosomal storage disorders - from pathology to first therapeutic possibilities. Neuropediatrics 36, 285 (2005). https://doi.org/10.1055/s-2005-872810
  18. Ichinose, M., Nakayama, M., Ohashi, T., Utsunomiya, Y., Kobayashi, M. and Eto, Y. : Significance of screening for Fabry disease among male dialysis patients. Clin. Exp. Nephrol. 9, 228 (2005). https://doi.org/10.1007/s10157-005-0369-4
  19. Bierer, G., Kamangar, N., Balfe, D., Wilcox, W. R. and Mosenifar, Z. : Cardiopulmonary exercise testing in fabry disease. Respiration 72, 504 (2005). https://doi.org/10.1159/000087675
  20. Linthorst, G. E., Hollak, C. E., Korevaar, J. C., Van Manen, J. G., Aerts, J. M. and Boeschoten, E. W. : Alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease. Nephrol. Dial. Transplant. 18, 1581 (2003). https://doi.org/10.1093/ndt/gfg194
  21. Bekri, S., Enica, A., Ghafari, T., Plaza, G., Champenois, I., Choukroun, G., Unwin, R. and Jaeger, P. : Fabry disease in patients with end-stage renal failure: the potential benefits of screening. Nephron. Clin. Pract. 101, c33 (2005). https://doi.org/10.1159/000085709
  22. Ichinose, M., Nakayama, M., Ohashi, T., Utsunomiya, Y., Kobayashi, M. and Eto, Y. : Significance of screening for Fabry disease among male dialysis patients. Clin. Exp. Nephrol. 9, 228 (2005). https://doi.org/10.1007/s10157-005-0369-4
  23. Lee, J. K., Kim, G. H., Kim, J. S., Kim, K. K., Lee, M. C. and Yoo, H. W. : Identification of four novel mutations in five unrelated Korean families with Fabry disease. Clin. Genet. 58, 228 (2000).
  24. Kitagawa, T., Ishige, N., Suzuki, K., Owada, M., Ohashi, T., Kobayashi, M., Eto, Y., Tanaka, A., Mills, K., Winchester, B. and Keutzer, J. : Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry. Mol. Genet. Metab. 85, 196 (2005). https://doi.org/10.1016/j.ymgme.2005.01.007
  25. Rozenfeld, P. A., Tarabuso, A., Ebner, R., Ramallo, G. and Fossati, C. A. : A successful approach for the detection of Fabry patients in Argentina. Clin. Genet. 69, 344 (2006). https://doi.org/10.1111/j.1399-0004.2006.00594.x
  26. Hasegawa, H., Takano, H., Shindo, S., Takeda, S., Funabashi, N., Nakagawa, K., Toyozaki, T., Kuwabara, Y. and Komuro, I. : Images in cardiovascular medicine. Transition from left ventricular hypertrophy to massive fibrosis in the cardiac variant of Fabry disease. Circulation. 113, e720 (2006). https://doi.org/10.1161/CIRCULATIONAHA.105.584292
  27. Liu, H. J., Cao, K. J., Li, C. R., Dai, J., Ma, J. Z., Yong, Y. H. and Sun, W. : Alpha-galactosidase A gene mutation in a Chinese family with Fabry disease mimicking clinical features of hypertrophic cardiomyopathy. Zhonghua Xin Xue Guan Bing Za Zhi. 34, 143 (2006).
  28. Lindsay, A. C., Behar, J. M. and McEwan, J. : Images in cardiology. Fabry's disease, an X-linked recessive condition, can have isolated cardiac manifestations in heterozygote females. Heart. 92, 685 (2006). https://doi.org/10.1136/hrt.2005.075085
  29. Hagege, A. A., Caudron, E., Damy, T., Roudaut, R., Millaire, A., Etchecopar-Chevreuil, C., Tran, T. C., Jabbour, F., Boucly, C., Prognon, P., Charron, P. and Germain, D. P. : Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test : the FOCUS study. Heart. 97, 131 (2011). https://doi.org/10.1136/hrt.2010.200188
  30. Yoon, H.-R., Cho, K., Kang, S., Kwon, Y. J., Jeong, C. S. and Lee, Y. S. : Method development for the profiling analysis of urine globotriaosylceramide (Gb-3) for the screening of Fabry disease by tandem mass spectrometry. Yakhak Hoej 51, 96 (2007).
  31. Choi, J. H., Cho, Y. M., Suh, K. S., Yoon, H. R., Kim, G. H., Kim, S. S., Ko, J. M., Lee, J. H., Park, Y. S. and Yoo, H. W. : Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease. J. Korean Med. Sci. 23, 243 (2008). https://doi.org/10.3346/jkms.2008.23.2.243