A distinct urinary biomarker pattern characteristic of female fabry patients that mirrors response to enzyme replacement therapy

PLoS ONE

Volumn 6, Issue 6, 2011, Pages

  Kistler, Andreas D ^a,b   Siwy, Justyna ^c   Breunig, Frank ^d   Jeevaratnam, Praveen ^e   Scherl, Alexander ^f   Mullen, William ^g   Warnock, David G ^h   Wanner, Christoph ^d   Hughes, Derralynn A ^e   Mischak, Harald ^c,i   Wüthrich, Rudolf P ^a   Serra, Andreas L ^a  

^a UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^c MOSAIQUES DIAGNOSTICS GMBH   (Germany)

^d UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f UNIVERSITY OF GENEVA   (Switzerland)

^g UNIVERSITY OF GLASGOW   (United Kingdom)

^h University of Alabama at Birmingham   (United States)

ⁱ UNIVERSITY OF GLASGOW   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; BIOLOGICAL MARKER; ALPHA GALACTOSIDASE;

ADOLESCENT; ADULT; ARTICLE; CAPILLARY ELECTROPHORESIS; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC VALUE; DISEASE SEVERITY; DRUG RESPONSE; ENZYME REPLACEMENT; FABRY DISEASE; FEMALE; FUNCTIONAL PROTEOMICS; HUMAN; MAJOR CLINICAL STUDY; MASS SPECTROMETRY; MOLECULAR MODEL; OUTCOME ASSESSMENT; PATIENT MONITORING; PROTEIN DETERMINATION; SCORING SYSTEM; SENSITIVITY AND SPECIFICITY; URINALYSIS; VALIDATION PROCESS; AGED; CASE CONTROL STUDY; MIDDLE AGED; URINE;

ADOLESCENT; ADULT; AGED; ALPHA-GALACTOSIDASE; BIOLOGICAL MARKERS; CASE-CONTROL STUDIES; ELECTROPHORESIS, CAPILLARY; ENZYME REPLACEMENT THERAPY; FABRY DISEASE; FEMALE; HUMANS; MASS SPECTROMETRY; MIDDLE AGED;

EID: 79958848218     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0020534     Document Type: Article

References (50)

1. Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, et al. (2008) Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 93: 112-128.
2. Dobyns WB, Filauro A, Tomson BN, Chan AS, Ho AW, et al. (2004) Inheritance of most X-linked traits is not dominant or recessive, just X-linked. Am J Med Genet A 129A: 136-143.
3. Guffon N, (2003) Clinical presentation in female patients with Fabry disease. J Med Genet 40: e38.
4. Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, et al. (2003) Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138: 338-346.
5. Andrade J, Waters PJ, Singh RS, Levin A, Toh BC, et al. (2008) Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test. Clin J Am Soc Nephrol 3: 139-145.
6. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, et al. (2001) Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med 345: 9-16.
7. Schiffmann R, Kopp JB, Austin HA 3rd, Sabnis S, Moore DF, et al. (2001) Enzyme replacement therapy in Fabry disease: a randomized controlled trial. Jama 285: 2743-2749.
8. El Dib RP, Pastores GM, (2010) Enzyme replacement therapy for Anderson-Fabry disease. Cochrane Database Syst Rev 5: CD006663.
9. Kitagawa T, Ishige N, Suzuki K, Owada M, Ohashi T, et al. (2005) Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry. Mol Genet Metab 85: 196-202.
10. Rozenfeld PA, De Francesco NP, Borrajo GJ, Ceci R, Fossati CA, (2009) An easy and sensitive method for determination of globotriaosylceramide (Gb3) from urinary sediment: utility for Fabry disease diagnosis and treatment monitoring. Clin Chim Acta 403: 194-197.
11. Whitfield PD, Calvin J, Hogg S, O'Driscoll E, Halsall D, et al. (2005) Monitoring enzyme replacement therapy in Fabry disease-role of urine globotriaosylceramide. J Inherit Metab Dis 28: 21-33.
12. Young E, Mills K, Morris P, Vellodi A, Lee P, et al. (2005) Is globotriaosylceramide a useful biomarker in Fabry disease? Acta Paediatr Suppl 94: 51-54; discussion 37-58.
13. Theodorescu D, Wittke S, Ross MM, Walden M, Conaway M, et al. (2006) Discovery and validation of new protein biomarkers for urothelial cancer: a prospective analysis. Lancet Oncol 7: 230-240.
14. Coon JJ, Zurbig P, Dakna M, Dominiczak AF, Decramer S, et al. (2008) CE-MS analysis of the human urinary proteome for biomarker discovery and disease diagnostics. Proteomics Clin Appl 2: 964.
15. Whybra C, Kampmann C, Krummenauer F, Ries M, Mengel E, et al. (2004) The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet 65: 299-307.
16. Metzger J, Luppa PB, Good DM, Mischak H, (2009) Adapting mass spectrometry-based platforms for clinical proteomics applications: The capillary electrophoresis coupled mass spectrometry paradigm. Crit Rev Clin Lab Sci 46: 129-152.
17. Mischak H, Coon JJ, Novak J, Weissinger EM, Schanstra JP, et al. (2009) Capillary electrophoresis-mass spectrometry as a powerful tool in biomarker discovery and clinical diagnosis: an update of recent developments. Mass Spectrom Rev 28: 703-724.
18. Moore DF, Krokhin OV, Beavis RC, Ries M, Robinson C, et al. (2007) Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities. Proc Natl Acad Sci U S A 104: 2873-2878.
19. Vojtova L, Zima T, Tesar V, Michalova J, Prikryl P, et al. (2010) Study of urinary proteomes in Anderson-Fabry disease. Ren Fail 32: 1202-1209.
20. Mischak H, Apweiler R, Banks R, Conaway M, Coon J, et al. (2007) Clinical Proteomics: a need to define the field and to begin to set adequate standards. Proteomics Clin Appl 1: 148-156.
21. Kotanko P, Kramar R, Devrnja D, Paschke E, Voigtlander T, et al. (2004) Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol 15: 1323-1329.
22. Tanaka M, Ohashi T, Kobayashi M, Eto Y, Miyamura N, et al. (2005) Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients. Clin Nephrol 64: 281-287.
23. Merta M, Reiterova J, Ledvinova J, Poupetova H, Dobrovolny R, et al. (2007) A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population. Nephrol Dial Transplant 22: 179-186.
24. Gaspar P, Herrera J, Rodrigues D, Cerezo S, Delgado R, et al. (2010) Frequency of Fabry disease in male and female haemodialysis patients in Spain. BMC Med Genet 11: 19.
25. Rolfs A, Bottcher T, Zschiesche M, Morris P, Winchester B, et al. (2005) Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 366: 1794-1796.
26. Baptista MV, Ferreira S, Pinho EMT, Carvalho M, Cruz VT, et al. (2010) Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study-screening genetic conditions in Portuguese young stroke patients. Stroke 41: 431-436.
27. Brouns R, Thijs V, Eyskens F, Van den Broeck M, Belachew S, et al. (2010) Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease. Stroke 41: 863-868.
28. Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, et al. (1995) An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 333: 288-293.
29. Sachdev B, Takenaka T, Teraguchi H, Tei C, Lee P, et al. (2002) Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 105: 1407-1411.
30. Chimenti C, Pieroni M, Morgante E, Antuzzi D, Russo A, et al. (2004) Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation 110: 1047-1053.
31. Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, et al. (2004) Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 34: 236-242.
32. Linthorst GE, Vedder AC, Aerts JM, Hollak CE, (2005) Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. Clin Chim Acta 353: 201-203.
33. Paschke E, Fauler G, Winkler H, Schlagenhauf A, Plecko B, et al. (2010) Urinary Total Globotriaosylceramide and Isoforms to Identify Women With Fabry Disease: A Diagnostic Test Study. Am J Kidney Dis.
34. Auray-Blais C, Ntwari A, Clarke JT, Warnock DG, Oliveira JP, et al. (2010) How well does urinary lyso-Gb3 function as a biomarker in Fabry disease? Clin Chim Acta 411: 1906-1914.
35. Delles C, Schiffer E, von Zur Muhlen C, Peter K, Rossing P, et al. (2010) Urinary proteomic diagnosis of coronary artery disease: identification and clinical validation in 623 individuals. J Hypertens 28: 2316-2322.
36. Kistler AD, Mischak H, Poster D, Dakna M, Wuthrich RP, et al. (2009) Identification of a unique urinary biomarker profile in patients with autosomal dominant polycystic kidney disease. Kidney Int 76: 89-96.
37. Haubitz M, Good DM, Woywodt A, Haller H, Rupprecht H, et al. (2009) Identification and validation of urinary biomarkers for differential diagnosis and evaluation of therapeutic intervention in anti-neutrophil cytoplasmic antibody-associated vasculitis. Mol Cell Proteomics 8: 2296-2307.
38. Schiffer E, Vlahou A, Petrolekas A, Stravodimos K, Tauber R, et al. (2009) Prediction of muscle-invasive bladder cancer using urinary proteomics. Clin Cancer Res 15: 4935-4943.
39. Good DM, Zurbig P, Argiles A, Bauer HW, Behrens G, et al. (2010) Naturally occurring human urinary peptides for use in diagnosis of chronic kidney disease. Mol Cell Proteomics 9: 2424-2437.
40. Rossing K, Mischak H, Dakna M, Zurbig P, Novak J, et al. (2008) Urinary proteomics in diabetes and CKD. J Am Soc Nephrol 19: 1283-1290.
41. Vylet'al P, Hulkova H, Zivna M, Berna L, Novak P, et al. (2008) Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy. J Inherit Metab Dis 31: 508-517.
42. Thongboonkerd V, (2007) Practical points in urinary proteomics. J Proteome Res 6: 3881-3890.
43. Wittke S, Mischak H, Walden M, Kolch W, Radler T, et al. (2005) Discovery of biomarkers in human urine and cerebrospinal fluid by capillary electrophoresis coupled to mass spectrometry: towards new diagnostic and therapeutic approaches. Electrophoresis 26: 1476-1487.
44. Neuhoff N, Kaiser T, Wittke S, Krebs R, Pitt A, et al. (2004) Mass spectrometry for the detection of differentially expressed proteins: a comparison of surface-enhanced laser desorption/ionization and capillary electrophoresis/mass spectrometry. Rapid Commun Mass Spectrom 18: 149-156.
45. Theodorescu D, Fliser D, Wittke S, Mischak H, Krebs R, et al. (2005) Pilot study of capillary electrophoresis coupled to mass spectrometry as a tool to define potential prostate cancer biomarkers in urine. Electrophoresis 26: 2797-2808.
46. Jantos-Siwy J, Schiffer E, Brand K, Schumann G, Rossing K, et al. (2009) Quantitative urinary proteome analysis for biomarker evaluation in chronic kidney disease. J Proteome Res 8: 268-281.
47. Reiner A, Yekutieli D, Benjamini Y, (2003) Identifying differentially expressed genes using false discovery rate controlling procedures. Bioinformatics 19: 368-375.
48. Decramer S, Wittke S, Mischak H, Zurbig P, Walden M, et al. (2006) Predicting the clinical outcome of congenital unilateral ureteropelvic junction obstruction in newborn by urinary proteome analysis. Nat Med 12: 398-400.
49. DeLeo J, pp. 318-325 Receiver operating characteristic laboratory (ROCLAB): Software fordeveloping decision strategies that account for uncertainty; 1993 Apr 25.
50. Zurbig P, Renfrow MB, Schiffer E, Novak J, Walden M, et al. (2006) Biomarker discovery by CE-MS enables sequence analysis via MS/MS with platform-independent separation. Electrophoresis 27: 2111-2125.