Journal Article

The value of estimated GFR in comparison to measured GFR for the assessment of renal function in adult patients with Fabry disease

Saskia M. Rombach, Marije C. Baas, Ineke J. M. ten Berge, Raymond T. Krediet, Frederike J. Bemelman and Carla E. M. Hollak

in Nephrology Dialysis Transplantation

Published on behalf of European Renal Association - European Dialysis and Transplant Assoc

Volume 25, issue 8, pages 2549-2556
Published in print August 2010 | ISSN: 0931-0509
Published online March 2010 | e-ISSN: 1460-2385 | DOI:
The value of estimated GFR in comparison to measured GFR for the assessment of renal function in adult patients with Fabry disease

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Background. Renal disease is one of the major complications in Fabry disease, an X-linked lysosomal storage disease due to deficiency of the enzyme α-galactosidase A. The aim of our study was to determine the value of creatinine-, cystatin C- and beta-trace-based formulas for the estimation of glomerular filtration rate (eGFR) in Fabry patients. For comparison, the gold standard method 125I-labelled iothalamate/131I-labelled hippuran [measured GFR (mGFR)] was used.

Methods. GFR was estimated by using 11 different formulas based on creatinine, cystatin C and beta-trace protein. Accuracy and precision, detection of early decline of renal function and follow-up of renal function by eGFR was compared to mGFR.

Results. One hundred and thirty-six GFR measurements and plasma samples were available from 36 (20 male) Fabry patients, treated with agalsidase α or β with a median follow-up of 3.1 (range 1.5–5.2) years. Median mGFR was 97.3 (15.5–148.6) ml/min/1.73 m2 in males and 84.4 (23.0–131.0) ml/min/1.73 m2 in females at the start of follow-up.

Conclusions. Although none of the investigated endogenous markers proved to be an equivalent substitute for mGFR in Fabry patients, the Stevens equation, a creatinine- and cystatin C-based formula, most closely approximated the mGFR. When a creatinine-based formula is preferred, considering that there is no standardized method available for cystatin C, the abbreviated Modification of Diet in Renal Disease (aMDRD) and the recently developed Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) formulas had the best performance. In male Fabry patients, the aMDRD may overestimate GFR, especially in the higher ranges. In these cases, CKD-EPI may perform better.

Keywords: estimated GFR; Fabry disease; renal function

Journal Article.  5375 words.  Illustrated.

Subjects: Nephrology

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