Biomarkers of fabry disease nephropathy

Clinical Journal of the American Society of Nephrology

Volumn 5, Issue 2, 2010, Pages 360-364

  Schiffmann, Raphael ^a   Waldek, Stephen ^b   Benigni, Ariela ^c   Auray Blais, Christiane ^d  

^a BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^b HOPE HOSPITAL   (United Kingdom)

^c MARIO NEGRI INSTITUTE FOR PHARMACOLOGICAL RESEARCH   (Italy)

^d UNIVERSITY OF SHERBROOKE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; GLOBOTRIAOSYLCERAMIDE; N ACETYL BETA GLUCOSAMINIDASE;

ALBUMINURIA; CONFERENCE PAPER; DISEASE MARKER; ENZYME REPLACEMENT; FABRY DISEASE; HUMAN; KIDNEY BIOPSY; MASS SPECTROMETRY; METABOLOMICS; NUCLEAR MAGNETIC RESONANCE; OUTCOME ASSESSMENT; PODOCYTE; PROTEINURIA; PROTEOMICS; SCORING SYSTEM;

EID: 77749325059     PISSN: 15559041     EISSN: 1555905X     Source Type: Journal    
DOI: 10.2215/CJN.06090809     Document Type: Conference Paper

References (41)

1. Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ: Fabry disease: Progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 24: 2102-2111, 2009
2. Cable WJ, McCluer RH, Kolodny EH, Ullman MD: Fabry disease: Detection of heterozygotes by examination of glycolipids in urinary sediment. Neurology 32: 1139-1145, 1982
3. Fuller M, Sharp PC, Rozaklis T, Whitfield PD, Blacklock D, Hopwood JJ, Meikle PJ: Urinary lipid profiling for the identification of Fabry hemizygotes and heterozygotes. Clin Chem 51: 688-694, 2005
4. Gupta S, Ries M, Kotsopoulos S, Schiffmann R: The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: A cross-sectional study of a large cohort of clinically affected heterozygous women. Medicine (Baltimore) 84: 261-268, 2005
5. Schiffmann R, Murray GJ, Treco D, Daniel P, Sellos-Moura M, Myers M, Quirk JM, Zirzow GC, Borowski M, Loveday K, Anderson T, Gillespie F, Oliver KL, Jeffries NO, Doo E, Liang TJ, Kreps C, Gunter K, Frei K, Crutchfield K, Selden RF, Brady RO: Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci U S A 97: 365-370, 2000
6. Auray-Blais C, Cyr D, Ntwari A, West ML, Cox-Brinkman J, Bichet DG, Germain DP, Laframboise R, Melancon SB, Stockley T, Clarke JT, Drouin R: Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. Mol Genet Metab 93: 331-340, 2008
7. Kitagawa T, Suzuki K, Ishige N, Ohashi T, Kobayashi M, Eto Y, Tanaka A, Odaka H, Owada M: Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes. Pediatr Nephrol 23: 1461-1471, 2008
8. Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, Rosing DR, Robinson C, Schaefer E, Gal A, Dambrosia JM, Garman SC, Brady RO, Schiffmann R: Pediatric Fabry disease. Pediatrics 115: e344-e355, 2005
9. Vedder AC, Linthorst GE, van Breemen MJ, Groener JE, Bemelman FJ, Strijland A, Mannens MM, Aerts JM, Hollak CE: The Dutch Fabry cohort: Diversity of clinical manifestations and Gb3 levels. J Inherit Metab Dis 30: 68-78, 2007
10. Barr C, Clarke JT, Ntwari A, Drouin R, Auray-Blais C: 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: 278-283, 2009
11. Chatterjee S, Gupta P, Pyeritz RE, Kwiterovich PO Jr.: Immunohistochemical localization of glycosphingolipid in urinary renal tubular cells in Fabry's disease. Am J Clin Pathol 82: 24-28, 1984
12. Clarke JT, Guttmann RD, Wolfe LS, Beaudoin JG, Morehouse DD: Enzyme replacement therapy by renal allo-transplantation in Fabry's disease. N Engl J Med, 287: 1215-1218, 1972
13. Gubler MC, Lenoir G, Grunfeld JP, Ulmann A, Droz D, Habib R: Early renal changes in hemizygous and heterozygous patients with Fabry's disease. Kidney Int 13: 223-235, 1978
14. Skoberne A, Konieczny A, Schiffer M: Glomerular epithelial cells in the urine: What has to be done to make them worthwhile? Am J Physiol Renal Physiol 296: F230-F241, 2009
15. Auray-Blais C, Cyr D, Mills K, Giguere R, Drouin R: Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease. J Inherit Metab Dis 30: 106, 2007
16. Auray-Blais C, Millington DS, Young SP, Clarke JT, Schiffmann R: Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease. J Inherit Metab Dis 32: 303-308, 2009
17. Schiffmann R, Ries M, Timmons M, Flaherty JT, Brady RO: Long-term therapy with agalsidase alfa for Fabry disease: Safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 21: 345-354, 2006
18. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ: Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med 345: 9-16, 2001
19. Vedder AC, Breunig F, Donker-Koopman WE, Mills K, Young E, Winchester B, Ten Berge IJ, Groener JE, Aerts JM, Wanner C, Hollak CE: Treatment of Fabry disease with different dosing regimens of agalsidase: Effects on antibody formation and GL-3. Mol Genet Metab 94: 319-325, 2008
20. Tahir H, Jackson LL, Warnock DG: Antiproteinuric therapy and fabry nephropathy: Sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta. J Am Soc Nephrol 18: 2609-2617, 2007
21. Randomised placebo-controlled trial of effect of ramipril on decline in glomerular filtration rate and risk of terminal renal failure in proteinuric, non-diabetic nephropathy. The GISEN Group (Gruppo Italiano di Studi Epidemiologici in Nefrologia). Lancet 349: 1857-1863, 1997
22. Vylet'al P, Hulkova H, Zivna M, Berna L, Novak P, Elleder M, Kmoch S: 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, 2008
23. Hong CY, Chia KS: Markers of diabetic nephropathy. J Diabet Complications 12: 43-60, 1998
24. Hara M, Yanagihara T, Kihara I: Urinary podocytes in primary focal segmental glomerulosclerosis. Nephron 89: 342-347, 2001
25. Garovic VD, Wagner SJ, Turner ST, Rosenthal DW, Watson WJ, Brost BC, Rose CH, Gavrilova L, Craigo P, Bailey KR, Achenbach J, Schiffer M, Grande JP: Urinary podocyte excretion as a marker for preeclampsia. Am J Obstet Gynecol 196: 320 e1-e7, 2007
26. Hara M, Yanagihara T, Takada T, Itoh M, Matsuno M, Yamamoto T, Kihara I: Urinary excretion of podocytes reflects disease activity in children with glomerulonephritis. Am J Nephrol 18: 35-41, 1998
27. Nakamura T, Ushiyama C, Suzuki S, Hara M, Shimada N, Ebihara I, Koide H: Urinary excretion of podocytes in patients with diabetic nephropathy. Nephrol Dial Transplant 15: 1379-1383, 2000
28. Sato Y, Wharram BL, Lee SK, Wickman L, Goyal M, Venkatareddy M, Chang JW, Wiggins JE, Lienczewski C, Kretzler M, Wiggins RC: Urine podocyte mRNAs mark progression of renal disease. J Am Soc Nephrol 20: 1041-1052, 2009
29. Wang G, Lai FM, Lai KB, Chow KM, Li KT, Szeto CC: Messenger RNA expression of podocyte-associated molecules in the urinary sediment of patients with diabetic nephropathy. Nephron Clin Pract 106: c169-c179, 2007
30. Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ: Agalsidase-beta therapy for advanced Fabry disease: A randomized trial. Ann Intern Med 146: 77-86, 2007
31. Decramer S, Gonzalez de Peredo A, Breuil B, Mischak H, Monsarrat B, Bascands JL, Schanstra JP: Urine in clinical proteomics. Mol Cell Proteomics 7: 1850-1862, 2008
32. Vilasi A, Cutillas PR, Maher AD, Zirah SF, Capasso G, Norden AW, Holmes E, Nicholson JK, Unwin RJ: Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome. Am J Physiol Renal Physiol 293: F456-F467, 2007
33. Lewis GD, Asnani A, Gerszten RE: Application of metabolomics to cardiovascular biomarker and pathway discovery. J Am Coll Cardiol 52: 117-123, 2008
34. Auray-Blais C, Clarke JTR, Young SP, Millington DS: Biomarkers in Fabry disease. Clin Ther 31, 2009
35. Moore DF, Krokhin OV, Beavis RC, Ries M, Robinson C, Goldin E, Brady RO, Wilkins JA, Schiffmann R: 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, 2007
36. Oliveira JP: Staging of Fabry disease using renal biopsies. Clin Ther 29[Suppl A]: S15-S16, 2007
37. Ma LJ, Nakamura S, Whitsitt JS, Marcantoni C, Davidson JM, Fogo AB: Regression of sclerosis in aging by an angiotensin inhibition-induced decrease in PAI-1. Kidney Int 58: 2425-2436, 2000
38. Mauer M, Najafian B: Implications of early renal changes in Fabry disease. Clin Ther 30[Suppl B]: S40, 2008
39. Aerts JM, Groener JE, Kuiper S, Donker-Koopman WE, Strijland A, Ottenhoff R, van Roomen C, Mirzaian M, Wijburg FA, Linthorst GE, Vedder AC, Rombach SM, Cox-Brinkman J, Somerharju P, Boot RG, Hollak CE, Brady RO, Poorthuis BJ: Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A 105: 2812-2817, 2008
40. Barbey F, Brakch N, Linhart A, Jeanrenaud X, Palecek T, Bultas J, Burnier M, Hayoz D: Increased carotid intimamedia thickness in the absence of atherosclerotic plaques in an adult population with Fabry disease. Acta Paediatr Suppl 95: 63-68, 2006
41. DeGraba T, Azhar S, Dignat-George F, Brown E, Boutiere B, Altarescu G, McCarron R, Schiffmann R: Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol 47: 229-233, 2000