Urinary total globotriaosylceramide and isoforms to identify women with fabry disease: A diagnostic test study

American Journal of Kidney Diseases

Volumn 57, Issue 5, 2011, Pages 673-681

  Paschke, Eduard ^a   Fauler, Guenter ^a   Winkler, Heimo ^a   Schlagenhauf, Axel ^a   Plecko, Barbara ^a   Erwa, Wolfgang ^a   Breunig, Frank ^b,c   Urban, Wolfgang ^d   Vujkovac, Bojan ^e   Sunder Plassmann, Gere ^d   Kotanko, Peter ^d,f  

^a MEDICAL UNIVERSITY OF GRAZ   (Austria)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c KfH Kidney Center Ochsenfurt   (Germany)

^d MEDICAL UNIVERSITY OF VIENNA   (Austria)

^e General Hospital Slovenj Gradec   (Slovenia)

^f BETH ISRAEL MEDICAL CENTER   (United States)

Author keywords

chronic kidney disease; Fabry disease; females; receiver operating characteristic (ROC) analysis; sensitivity and specificity of urinary Gb3 isoforms

Indexed keywords

ALPHA GALACTOSIDASE; CREATININE; GLOBOTRIAOSYLCERAMIDE; GLOBOTRIAOSYLCERAMIDE 3; UNCLASSIFIED DRUG;

ADULT; ANALYTICAL PARAMETERS; ARTICLE; CHRONIC KIDNEY DISEASE; CONTROLLED STUDY; CREATININE URINE LEVEL; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; DIAGNOSTIC TEST ACCURACY STUDY; ELECTROSPRAY MASS SPECTROMETRY; FABRY DISEASE; FEMALE; GENE MUTATION; GLA GENE; GLOMERULUS FILTRATION RATE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; RELATIVE; SENSITIVITY AND SPECIFICITY; STRUCTURAL GENE; TANDEM MASS SPECTROMETRY;

ADULT; AGED; ALPHA-GALACTOSIDASE; BIOLOGICAL MARKERS; DIAGNOSTIC TESTS, ROUTINE; FABRY DISEASE; FEMALE; HUMANS; MIDDLE AGED; PROTEIN ISOFORMS; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; TRIHEXOSYLCERAMIDES;

EID: 79954583586     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.ajkd.2010.10.046     Document Type: Article

References (46)

1. R.J. Desnick, A. Ioannou Yiannis, and M. Eng Christine α-Galactosidase deficiency: Fabry disease C. Scriver, A.L. Beaudet, W.S. Sly, 8th ed. Genetic Basis of Inherited Disease Vol 3 2001 McGraw-Hill New York, NY 3733 3774
2. S. Nakao, C. Kodama, and T. Takenaka Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype Kidney Int 64 3 2003 801 807 (Pubitemid 37013815)
3. S. Nakao, T. Takenaka, and M. Maeda An atypical variant of Fabry's disease in men with left ventricular hypertrophy N Engl J Med 333 5 1995 288 293
4. P.J. Meikle, J.J. Hopwood, A.E. Clague, and W.F. Carey Prevalence of lysosomal storage disorders JAMA 281 3 1999 249 254 (Pubitemid 29058114)
5. M. Spada, S. Pagliardini, and M. Yasuda High incidence of later-onset Fabry disease revealed by newborn screening Am J Hum Genet 79 1 2006 31 40 (Pubitemid 43927374)
6. G.E. Linthorst, M.G. Bouwman, F.A. Wijburg, J.M. Aerts, B.J. Poorthuis, and C.E. Hollak Screening for Fabry disease in high risk populations: a systematic review J Med Genet 47 4 2010 217 222
7. C. Whybra, C. Kampmann, and I. Willers Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes J Inherit Metab Dis 24 7 2001 715 724 (Pubitemid 34023880)
8. K.D. MacDermot, A. Holmes, and A.H. Miners Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females J Med Genet 38 11 2001 769 775 (Pubitemid 33032933)
9. C.M. Eng, M. Banikazemi, and R.E. Gordon A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies Am J Hum Genet 68 3 2001 711 722 (Pubitemid 32202764)
10. R. Schiffmann, J.B. Kopp, and H.A. Austin III Enzyme replacement therapy in Fabry disease: a randomized controlled trial JAMA 285 21 2001 2743 2749 (Pubitemid 32525371)
11. B.L. Thurberg, H. Rennke, and R.B. Colvin Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy Kidney Int 62 6 2002 1933 1946 (Pubitemid 35366149)
12. R.J. Desnick Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval Expert Opin Biol Ther 4 7 2004 1167 1176 (Pubitemid 38937558)
13. M. Beck, R. Ricci, and U. Widmer Fabry disease: overall effects of agalsidase alfa treatment Eur J Clin Invest 34 12 2004 838 844 (Pubitemid 39657931)
14. A. Mehta, M. Beck, and P. Elliott Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data Lancet 374 9706 2009 1986 1996
15. F. Baehner, C. Kampmann, C. Whybra, E. Miebach, C.M. Wiethoff, and M. Beck Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study J Inherit Metab Dis 26 7 2003 617 627 (Pubitemid 38008966)
16. C. Whybra, E. Miebach, and E. Mengel A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease Genet Med 11 6 2009 441 449
17. J. Shabbeer, M. Robinson, and R.J. Desnick Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography Hum Mutat 25 3 2005 299 305 (Pubitemid 40365149)
18. A. Rolfs, T. Bottcher, and M. Zschiesche Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study Lancet 366 9499 2005 1794 1796 (Pubitemid 41642643)
19. W.J. Cable, R.H. McCluer, E.H. Kolodny, and M.D. Ullman Fabry disease: detection of heterozygotes by examination of glycolipids in urinary sediment Neurology 32 10 1982 1139 1145 (Pubitemid 12029050)
20. R. Schiffmann, S. Waldek, A. Benigni, and C. Auray-Blais Biomarkers of Fabry disease nephropathy Clin J Am Soc Nephrol 5 2 2010 360 364
21. J.M. Aerts, J.E. Groener, and S. Kuiper Elevated globotriaosylsphingosine is a hallmark of Fabry disease Proc Natl Acad Sci U S A 105 8 2008 2812 2817 (Pubitemid 351723626)
22. C. Auray-Blais, D. Cyr, and A. Ntwari Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease Mol Genet Metab 93 3 2008 331 340 (Pubitemid 351192345)
23. K. Mills, P. Morris, and P. Lee Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease J Inherit Metab Dis 28 1 2005 35 48 (Pubitemid 40253982)
24. M. Fuller, P.C. Sharp, and T. Rozaklis Urinary lipid profiling for the identification of Fabry hemizygotes and heterozygotes Clin Chem 51 4 2005 688 694 (Pubitemid 40463920)
25. A.C. Vedder, G.E. Linthorst, and M.J. van Breemen The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels J Inherit Metab Dis 30 1 2007 68 78 (Pubitemid 46140228)
26. P.D. Whitfield, J. Calvin, and S. Hogg Monitoring enzyme replacement therapy in Fabry diseaserole of urine globotriaosylceramide J Inherit Metab Dis 28 1 2005 21 33 (Pubitemid 40253981)
27. B.C. Nelson, T. Roddy, and S. Araghi Globotriaosylceramide isoform profiles in human plasma by liquid chromatography-tandem mass spectrometry J Chromatogr B Analyt Technol Biomed Life Sci 805 1 2004 127 134 (Pubitemid 38534411)
28. J.T. Clarke The glycosphingolipids of human plasma lipoproteins Can J Biochem 59 6 1981 412 417
29. M. Lorenz, A.C. Hauser, and M. Puspok-Schwarz Anderson-Fabry disease in Austria Wien Klin Wochenschr 115 7-8 2003 235 240 (Pubitemid 36741010)
30. T. Kroepfl, K. Paul, P. Kotanko, B. Plecko, and E. Paschke A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease J Inherit Metab Dis 25 8 2002 695 696 (Pubitemid 36416639)
31. F. Weidemann, F. Breunig, and M. Beer Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study Circulation 108 11 2003 1299 1301 (Pubitemid 37174405)
32. F. Verovnik, D. Benko, B. Vujkovac, and G.E. Linthorst Remarkable variability in renal disease in a large Slovenian family with Fabry disease Eur J Hum Genet 12 8 2004 678 681 (Pubitemid 39172431)
33. E. Young, K. Mills, and P. Morris Is globotriaosylceramide a useful biomarker in Fabry disease? Acta Paediatr Suppl 94 447 2005 51 54 discussion 37-58
34. S. Bekri, O. Lidove, R. Jaussaud, B. Knebelmann, and F. Barbey The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature Cardiovasc Hematol Agents Med Chem 4 4 2006 289 297 (Pubitemid 44574840)
35. A.S. Levey, J.P. Bosch, J.B. Lewis, T. Greene, N. Rogers, and D. Roth A more accurate method to estimate glomerular filtration rate from serum creatinine: a new prediction equation Modification of Diet in Renal Disease Study Group Ann Intern Med 130 6 1999 461 470 (Pubitemid 29135798)
36. G. Fauler, G.N. Rechberger, and D. Devrnja Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard Rapid Commun Mass Spectrom 19 11 2005 1499 1506 (Pubitemid 40801992)
37. P. Kotanko, R. Kramar, and D. Devrnja Results of a nationwide screening for Anderson-Fabry disease among dialysis patients J Am Soc Nephrol 15 5 2004 1323 1329 (Pubitemid 38526014)
38. G. Tripepi, K.J. Jager, F.W. Dekker, and C. Zoccali Diagnostic methods 2: receiver operating characteristic (ROC) curves Kidney Int 76 3 2009 252 256
39. A. Mehta, M. Beck, and F. Eyskens Fabry disease: a review of current management strategies QJM 103 9 2010 641 659
40. P. Gaspar, J. Herrera, and D. Rodrigues Frequency of Fabry disease in male and female haemodialysis patients in Spain BMC Med Genet 11 2010 19
41. S.M.D.N. Rombach, M.G. Bouwman, and G.E. Linthorst Plasma blobotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease Biochim Biophys Acta 1802 2010 741 748
42. S.M. Rombach, M.C. Baas, I.J. ten Berge, R.T. Krediet, F.J. Bemelman, and C.E. Hollak The value of estimated GFR in comparison to measured GFR for the assessment of renal function in adult patients with Fabry disease Nephrol Dial Transplant 25 8 2010 2549 2556
43. C. Barr, J.T. Clarke, A. Ntwari, R. Drouin, and C. Auray-Blais Fabry disease urinary globotriaosylceramide/creatinine biomarker evaluation by liquid chromatography-tandem mass spectrometry in healthy infants from birth to 6 months Mol Genet Metab 97 4 2009 278 283
44. C. Auray-Blais, D. Cyr, K. Mills, R. Giguere, and R. Drouin Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease J Inherit Metab Dis 30 1 2007 106
45. T. Kitagawa, N. Ishige, and K. Suzuki Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry Mol Genet Metab 85 3 2005 196 202 (Pubitemid 40840759)
46. Kuchar L HJ, Ledvinova J. Changed Gb3Cer isoform pattern in urine: biochemical marker of FD disease useful in monitoring of enzyme replacement therapy. 17th ESGLD Workshop 2009, Bad Honnef, Germany, September 10-13, 2009.