Enzyme replacement therapy and renal function in 201 patients with Fabry disease

A. Schwarting, F. Dehout, S. Feriozzi, M. Beck, A. Mehta, Gere Sunder-Plassmann, O. Bodamer, A. C. Hauser, J. Kleinert, C. Binder, P. Kotanko, T. Kroepfl, B. Plecko, G. Clerbaux, B. Georges, M. C. Nassogne, Y. Pirson, D. Roland, L. Van Maldergem, P. GoyensF. Eyskens, J. Bultas, D. Karetová, A. Linhart, J. C. Lubanda, S. Magage, G. Choukroun, J. Berthelot, S. Carey Reomonnay, D. Lacombe, S. Benziane, E. Hachulla, B. Dussol, P. Jaeger, D. Germain, O. Lidove, R. Jaussaud, D. Caraman, A. von Arnim-Baas, J. Hennermann, B. Hoffmann, H. P.H. Neumann, A. Das, S. Illsinger, K. Baron, S. Delgado-Sanchez, R. Hartung, C. Kampmann, C. Whybra, B. Koletzko, T. Böttcher, A. Rolfs, O. Gabrielli, I. F. Salvatori, D. Concolino, P. Strisciuglio, G. Vega, W. Borsini, S. Buchner, R. Parini, R. Ravaglia, S. Santus, R. Di Vito, A. Burlina, G. Tognana, D. Antuzzi, N. Castorina, M. Di Lillo, S. Feriozzi, R. Ricci, G. Houge, L. M. Lægreid, N. Strømsvik, E. Svarstad, C. Tøndel, A. Skarbøvik, A. B. Tafjord, M. A. Barba, E. Gómez Huertas, J. Herrera, J. Ara, J. Bonal, E. Larrousse, G. Pintos, J. Ballarin, R. Torra, J. Torras, V. Torregrosa, J. González, M. Garcia, C. Herrera, I. Martin, J. Rodriguez, F. J. Barbado, J. Garcia-Consuegra, J. García de Lorenzo, M. López, J. Paniagua, S. Hernández

Research output: Contribution to journalArticlepeer-review

75 Scopus citations


Aim: Fabry disease is a rare lysosomal storage disorder caused by deficient activity of α-galactosidase A, resulting in progressive cellular accumulation of glycolipids, which may ultimately result in end-stage renal disease. We examined the effects of enzyme replacement therapy (ERT) with A galsidase-α on renal function using data from a large international database, the Fabry Outcome Survey (FOS). Methods: This analysis was based on 1,040 serum creatinine measurements in 201 patients with Fabry disease, aged 20 - 60 years, with serum creatinine concentrations of less than 2 mg/dl and duration of ERT of up to 4.7 years. Both pretreatment and treatment data were used to examine independent predictors of changes in serum creatinine. In a second approach longitudinal serum creatinine measurements from 1 year before treatment, at baseline and 1 and 2 years after the start of treatment were analyzed in 20 patients with chronic kidney disease (CKD) Stage 2 and 3. Results: We found an independent negative association between serum creatinine and time on Agalsidase-α treatment (p < 0.05). Renal function declined significantly (p < 0.05) in the year before treatment. After 1 year of treatment, however, the decline in estimated glomerular filtration rate had been halted, and renal function was preserved for up to 2 years. Conclusions: In conclusion, ERT with Agalsidase-α is associated with decrease of serum creatinine and may prevent the deterioration of renal function in patients with Fabry disease.

Original languageEnglish (US)
Pages (from-to)77-84
Number of pages8
JournalClinical Nephrology
Issue number2
StatePublished - Aug 2006
Externally publishedYes


  • Chronic kidney disease
  • Creatinine
  • Enzyme replacement therapy
  • Fabry disease
  • Fabry Outcome Survery
  • Glomerular filtration rate

ASJC Scopus subject areas

  • Nephrology


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