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

摘要

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.