Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease

Journal of Inherited Metabolic Disease

Volumn 32, Issue 2, 2009, Pages 303-308

  Auray Blais, Christiane ^a   Millington, D S ^b   Young, S P ^b   Clarke, J T R ^a   Schiffmann, R ^c  

^a UNIVERSITY OF SHERBROOKE   (Canada)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE;

ARTICLE; CEREBROVASCULAR ACCIDENT; CLINICAL PROTOCOL; ENZYME DEFICIENCY; FABRY DISEASE; HUMAN; KIDNEY DISEASE; LIQUID CHROMATOGRAPHY; RISK ASSESSMENT; SCREENING TEST; TANDEM MASS SPECTROMETRY; VASCULAR DISEASE;

EID: 64349104706     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1055-6     Document Type: Article

References (36)

1. Aerts JM, Groener JE, Kuiper S, et al (2008) Elevated globotriaosylsphingosine is a hallmark of Fabry disease. PNAS 105(8): 2812-2817. doi: 10.1073/pnas.0712309105.
2. An Y, Young SP, Kishnani PS, et al (2005) Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease. Mol Genet Metab 85(4): 247-254. doi: 10.1016/ j.ymgme.2005.03.010.
3. Auray-Blais C, Cyr D, Mills K, Giguère R, Drouin R (2007a) Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease. J Inherit Metab Dis 30(1): 106. doi: 10.1007/s10545-006-0444-3.
4. Auray-Blais C, Cyr D, Drouin R (2007b) Quebec Neonatal Mass Urinary Screening Programme: From micromolecules to macromolecules. J Inherit Metab Dis 30(4): 515-521. doi: 10.1007/s10545-007-0607-x.
5. Auray-Blais C, Cyr D, Ntwari A., et al (2008) Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. Mol Gen Metab 93(3): 331-340. doi: 10.1016/j.ymgme.2007.10.001.
6. Bekri S, Enica A, Ghafari T, et al (2005) Fabry disease in patients with end-stage renal failure: The potential benefits of screening. Nephron Clin Pract 101(1): C33-c38. doi: 10.1159/000085709.
7. Brady RO, Schiffmann R (2000) Clinical features of and recent advances in therapy for Fabry disease. JAMA 284: 2771-2775. doi: 10.1001/ jama.284.21.2771.
8. Chimenti C, Pieroni M, Morgante E, Antuzzi D, Russo A, Russo MA (2004) Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation 110: 1047-1053. doi: 10.1161/ 01.CIR.0000139847.74101.03.
9. Clarke JTR (2007) Narrative review: Fabry disease. Ann Intern Med 146: 425-433.
10. Desnick RJ, Dawson G, Desnick SJ, Sweeley CC, Krivit K (1971) Diagnosis of glycosphingolipidoses by urinary sediment analysis. New Engl J Med 284(14): 739-744.
11. Desnick RJ, Brady RO, Barranger J, 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.
12. Elleder M, Bradová V, Smíd F, et al (1990) Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch A Pathol Anat Histopathol 417: 449-455. doi: 10.1007/ BF01606034.
13. Eng CM, Guffon N, Wilcox WR, 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. doi: 10.1056/NEJM200107053450102.
14. Fauler G, Rechberger GN, Devrnja D, et al (2005) Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard. Rapid Commun Mass Spectrom 19: 1499-1506. doi: 10.1002/rcm.1948.
15. Fuller M, Rozaklis T, Ramsay SL, Hopwood JJ, Meikle PJ (2004) Disease-specific markers for the mucopolysaccharidoses. Pediatr Res 56(5): 733-738. doi: 10.1203/01.PDR.0000141987.69757.DD.
16. Fuller M, Sharp PC, Rozaklis T, et al (2005) Urinary profiling for the identification of Fabry hemizygotes and heterozygotes. Clin Chem 51(4): 688-694.
17. Linhart A, Magage S, Palecek T, Bultas J (2002) Cardiac involvement in Fabry disease. Acta Paediatr Suppl 91(439): 15-20. doi: 10.1080/ 080352502762457851.
18. 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. doi: 10.1016/j.cccn.2004.10.019.
19. Mehta A, Ricci R, Widmer U, et al (2004) Fabry disease defined: Baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 34: 236-242. doi: 10.1111/j.1365-2362.2004.01309.x.
20. Meikle PJ, Hopwood, JJ, Clague AE, Carey WF (1999) Prevalence of lysosomal storage disorders. JAMA 281: 249-254. doi: 10.1001/ jama.281.3.249.
21. Mills K, Johnson A, Winchester B (2002) Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectrometry. FEBS Lett 515: 171-176. doi: 10.1016/S0014-5793(02)02491-2.
22. Mills K, Vellodi A, Morris P, et al (2004) Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease. Eur J Pediatr 163: 595-603.
23. Mills K, Morris P, Lee P, et al (2005) Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease. J Inherit Metab Dis 28: 35-48. doi: 10.1007/ s10545-005-5263-4.
24. Millington DS (2008) Rapid and effective screening for lysosomal storage disease: How close are we? Clin Chem 54: 1592-1594. doi: 10.1373/ clinchem.2008.112110.
25. Nakao S, Kodama C, Takenaka T, et al (1995) An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 333: 288-293. doi: 10.1056/NEJM199508033330504.
26. Nakao S, Kodama C, Takenaka T, et al (2003) Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int 64: 801-807. doi: 10.1046/ j.1523-1755.2003.00160.x.
27. Redonnet-Vernhet I, Ploos van Amstel JK, et al (1996) Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene. J Med Genet 33: 682-688. doi: 10.1136/jmg.33.8.682.
28. Roddy TP, Nelson BC, Sung CC, et al (2005) Liquid chromatography-tandem mass spectrometry quantification of globotriaosylceramide in plasma for long-term monitoring of Fabry patients treated with enzyme replacement therapy. Clin Chem 51: 237-240. doi: 10.1373/clinchem.2004.038323.
29. Rolfs A, Bottcher T, Zschiesche M, Morris P, Winchester B, Bauer P (2005) Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 366: 1794-1796. doi: 10.1016/ S0140-6736(05)67635-0.
30. Sachdev B, Takenaka T, Teraguchi H, et al (2002) Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 105: 1407-1411. doi: 10.1161/ 01.CIR.0000012626.81324.38.
31. Schiffmann R, Ries M (2005) Fabry's disease-an important risk factor for stroke. Lancet 366: 1754-1756. doi: 10.1016/S0140-6736(05)67636-2.
32. Schiffmann R, Ries M, Timmons M, Flaherty JT, Brady RO (2006) 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. doi: 10.1093/ndt/gfi152.
33. Schiffmann R, Askari H, Timmons M, et al (2007) Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing. J Am Soc Nephrol 18: 1576-1583. doi: 10.1681/ASN.2006111263.
34. Schoenmakere GD, Poppe B, Wuyts B, et al (2008) Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients. Nephrol Dial Transplant 23(12): 4044-4048. doi: 10.1093/ndt/ gfn370.
35. Spada M, Pagliardini S, Yasuda M, et al (2006) High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet 79: 31-40. doi: 10.1086/504601.
36. Whitfield PD, Calvin J, Hogg S, et al (2005) Monitoring enzyme replacement therapy in Fabry disease - role of urine globotriaosylceramide. J Inherit Metab Dis 28: 21-33. doi: 10.1007/ s10545-005-4415-x.