Enzyme replacement therapy and renal function in 201 patients with Fabry disease.
OBJECTIVE
Fabry disease is a rare lysosomal storage disorder caused by deficient activity of alpha-galactosidase A, resulting in progressive cellular accumulation of glycolipids, which may ultimately result in endstage renal disease. We examined the effects of enzyme replacement therapy (ERT) with Agalsidase-alpha 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-alpha 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-alpha is associated with decrease of serum creatinine and may prevent the deterioration of renal function in patients with Fabry disease.
Schwarting
A
A
Department of Nephrology, University of Mainz, Mainz, Germany.
Dehout
F
F
Feriozzi
S
S
Beck
M
M
Mehta
A
A
Sunder-Plassmann
G
G
D000328:Adult; D000368:Aged; D015331:Cohort Studies; D003404:Creatinine / Q000097:blood; D000795:Fabry Disease / Q000150:complications / Q000188:drug therapy* / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007527:Isoenzymes / Q000627:therapeutic use; D007668:Kidney / Q000187:drug effects* / Q000503:physiopathology*; D007676:Kidney Failure, Chronic / Q000188:drug therapy / Q000209:etiology / Q000503:physiopathology; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D000519:alpha-Galactosidase / Q000627:therapeutic use*
D007527:Isoenzymes; D003404:Creatinine; D000519:alpha-Galactosidase