Antiproteinuric therapy and Fabry nephropathy: Factors associated with preserved kidney function during agalsidase-beta therapy

Journal of Medical Genetics

Volumn 52, Issue 12, 2015, Pages 860-866

  Warnock, David G ^a   Thomas, Christie P ^b   Vujkovac, Bojan ^c   Campbell, Ruth C ^d   Charrow, Joel ^e   Laney, Dawn A ^f   Jackson, Leslie L ^a   Wilcox, William R ^f   Wanner, Christoph ^g  

^a University of Alabama at Birmingham   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c General Hospital   (Slovenia)

^d MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^e NORTHWESTERN UNIVERSITY   (United States)

^f EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AGALSIDASE BETA; ALBUMIN; ANGIOTENSIN RECEPTOR ANTAGONIST; CREATININE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; PROTEIN; ALPHA GALACTOSIDASE; ISOENZYME;

ADULT; ADVERSE OUTCOME; ARTICLE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL EFFECTIVENESS; CLINICAL EVALUATION; CONTROLLED STUDY; DISEASE ASSOCIATION; DRUG EFFICACY; DRUG SAFETY; FABRY DISEASE; FEMALE; GLOMERULUS FILTRATION RATE; HUMAN; HYPERKALEMIA; HYPOTENSION; KIDNEY DISEASE; KIDNEY FUNCTION; MALE; METABOLIC RATIO; MULTICENTER STUDY; OUTCOME ASSESSMENT; PRIORITY JOURNAL; REGRESSION ANALYSIS; TREATMENT DURATION; URINARY PROTEIN TO CREATININE RATIO; COMBINATION DRUG THERAPY; COMPLICATION; DRUG EFFECTS; KIDNEY; KIDNEY DISEASES; MIDDLE AGED; PATHOPHYSIOLOGY; PROSPECTIVE STUDY; TREATMENT OUTCOME;

ADULT; ALPHA-GALACTOSIDASE; ANGIOTENSIN RECEPTOR ANTAGONISTS; ANGIOTENSIN-CONVERTING ENZYME INHIBITORS; DRUG THERAPY, COMBINATION; FABRY DISEASE; FEMALE; GLOMERULAR FILTRATION RATE; HUMANS; ISOENZYMES; KIDNEY; KIDNEY DISEASES; MALE; MIDDLE AGED; PROSPECTIVE STUDIES; TREATMENT OUTCOME;

EID: 84954208512     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103471     Document Type: Article

References (30)

1. Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: fabry disease. In: Scriver C, Beaudet A, Sly W, et al, eds. The metabolic bases of inherited disease. 8th edn. New York: McGraw-Hill, 2001:3733-74.
2. Germain DP. Fabry disease. Orphanet J Rare Dis 2010;5:30.
3. Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP. Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry. Mol Genet Metab 2008;93:112-28.
4. Ortiz A, Oliveira JP, Waldek S, Warnock DG, Cianciaruso B, Wanner C. Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrol Dial Transplant 2008;23:1600-7.
5. Dobrovolny R, Dvorakova L, Ledvinova J, Magage S, Bultas J, Lubanda JC, Elleder M, Karetova D, Pavlikova M, Hrebicek M. Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population. J Mol Med 2005;83:647-54.
6. Echevarria L, Benistan K, Toussaint A, Dubourg O, Hagege AA, Eladari D, Jabbour F, Beldjord C, De Mazancourt P, Germain DP. X-chromosome inactivation in female patients with Fabry disease. Clin Genet 2015. doi: 10.1111/cge.12613.
7. Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet Med 2009;11:790-6.
8. Mehta A, Clarke JT, Giugliani R, Elliott P, Linhart A, Beck M, Sunder-Plassmann G. Natural course of Fabry disease: changing pattern of causes of death in FOS-Fabry Outcome Survey. J Med Genet 2009;46:548-52.
9. 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 2001;345:9-16.
10. Thurberg BL, Rennke H, Colvin RB, Dikman S, Gordon RE, Collins AB, Desnick RJ, O'Callaghan M. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 2002;62:1933-46.
11. Germain D, Waldek S, Banikazemi M, Bushinsky D, Charrow J, Lee P, Loew T, Vedder AC, Abichandani R, Wilcox WR, Guffon N. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 2007;18:1547-57.
12. Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. J Med Genet 2015;52:353-8.
13. 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 2007;146: 77-86.
14. Tahir H, Jackson LL, Warnock DG. Antiproteinuric therapy and Fabry nephropathy: Sustained reduction in proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta. J Am Soc Nephrol 2007;18:2609-17.
15. 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 2009;24:2102-11.
16. Wanner C, Oliveira JP, Ortiz A, Mauer M, Germain DP, Linthorst GE, Serra AL, Marodi L, Mignani R, Cianciaruso B, Vujkovac B, Lemay R, Beitner-Johnson D, Waldek S, Warnock DG. Prognostic indicators of renal disease progression in adults with fabry disease: natural history data from the fabry registry. Clin J Am Soc Nephrol 2010;5:2220-8.
17. Stevens LA, Coresh J, Greene T, Levey AS. Assessing kidney function-measured and estimated glomerular filtration rate. N Engl J Med 2006;354:2473-83.
18. Levey AS, Coresh J, Greene T, Marsh J, Stevens LA, Kusek JW, Van Lente F. Expressing the modification of diet in renal disease study equation for estimating glomerular filtration rate with standardized serum creatinine values. Clin Chem 2007;53:766-72.
19. Warnock DG, Ortiz A, Mauer M, Linthorst GE, Oliveira JP, Serra AL, Marodi L, Mignani R, Vujkovac B, Beitner-Johnson D, Lemay R, Cole JA, Svarstad E, Waldek S, Germain DP, Wanner C, Fabry R. Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant 2012;27:1042-9.
20. Weidemann F, Niemann M, Stork S, Breunig F, Beer M, Sommer C, Herrmann S, Ertl G, Wanner C. Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications. J Intern Med 2013;274:331-41.
21. Fogo AB, Bostad L, Svarstad E, Cook WJ, Moll S, Barbey F, Geldenhuys L, West M, Ferluga D, Vujkovac B, Howie AJ, Burns A, Reeve R, Waldek S, Noel LH, Grunfeld JP, Valbuena C, Oliveira JP, Muller J, Breunig F, Zhang X, Warnock DG. Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN). Nephrol Dial Transplant 2010;25:2168-77.
22. Tondel C, Kanai T, Larsen KK, Ito S, Politei JM, Warnock DG, Svarstad E. Foot process effacement is an early marker of nephropathy in young classic fabry patients without albuminuria. Nephron Physiol 2015;129:16-21.
23. Trimarchi H, Forrester M, Lombi F, Pomeranz V, Rana MS, Karl A, Andrews J. Amiloride as an alternate adjuvant antiproteinuric agent in fabry disease: the potential roles of plasmin and uPAR. Case Rep Nephrol 2014;2014:854521.
24. Pisani A, Sabbatini M, Duro G, Colomba P, Riccio E. Antiproteinuric effect of add-on paricalcitol in Fabry disease patients: a prospective observational study. Nephrol Dial Transplant 2015;30:661-6.
25. Schiffmann R, Swift C, Wang X, Blankenship D, Ries M. A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease. J Inher Metab Dis 2015. doi: 10.1007/s10545-015-9845-5.
26. Lenders M, Stypmann J, Duning T, Schmitz B, Brand SM, Brand E. Serum-mediated inhibition of enzyme replacement therapy in fabry disease. J Am Soc Nephrol 2015. doi: 10.1681/ASN.2014121226.
27. Shen JS, Meng XL, Moore DF, Quirk JM, Shayman JA, Schiffmann R, Kaneski CR. Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. Mol Genet Metab 2008;95:163-8.
28. Hilz MJ, Marthol H, Schwab S, Kolodny EH, Brys M, Stemper B. Enzyme replacement therapy improves cardiovascular responses to orthostatic challenge in Fabry patients. J Hypertens 2010;28:1438-48.
29. Kent DM, Jafar TH, Hayward RA, Tighiouart H, Landa M, de Jong P, de Zeeuw D, Remuzzi G, Kamper AL, Levey AS. Progression risk, urinary protein excretion, and treatment effects of Angiotensin-converting enzyme inhibitors in nondiabetic kidney disease. J Am Soc Nephrol 2007;18:1959-65.
30. Luft FC. Perspective on combination RAS blocking therapy: off-TARGET, dis-CORD, MAP-to-nowhere, low ALTITUDE, and NEPHRON-D. Am J Nephrol 2014;39:46-9.