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Abstract: SA-PO422

Evaluation of Renal Biomarkers for Fabry Disease Patients with and Without Enzyme Replacement Therapy

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic


  • Bacci, Marcelo Rodrigues, Faculdade de Medicina do ABC, Santo Andre, Brazil
  • Fonseca, Fernando Luiz affonso, Faculdade de Medicina do ABC, Santo Andre, Brazil
  • Braga, Marion Coting, Universidade Federal de São Paulo, São Paulo, Brazil
  • Martins, Ana maria, Universidade Federal de São Paulo, São Paulo, Brazil
  • D'Almeida, Vania, Universidade Federal de São Paulo, São Paulo, Brazil

Renal follow-up is an important part of clinical monitoring in patients with Fabry disease(FD)with the aim of avoiding renal failure.Despite its limitations,creatinine is still the most used biomarker.While new renal biomarkers are described,their effectiveness has not yet been fully evaluated for FD.This study aimed to compare renal biomarkers generally and rarely used in the evaluation of FD patients receiving or not enzyme replacement therapy(TRE).


The usual biomarkers for renal monitoring(microalbuminuria, proteinuria and creatinine)and the proposed biomarkers(cystatin C,beta-2-microglobulin(B2M),NGAL were quantified in blood and/or urine samples of 40 patients with FD,39 controls without renal disease paired by age and sex and 38 controls with renal disease undergoing hemodialysis.


In FD group,32.5% are men with mean age of 41 years old and mean age of 37.8 years of FD diagnosis.There was a statistical difference(p<0.05)for proteinuria and microalbuminuria in isolated urine samples and,in results for both serum and plasma samples for cystatin C,NGAL,B2M, creatinine and GFR.All analytical parameters evaluated,including ROC curve,sensitivity,specificity and accuracy indicated B2M as the best biomarker,followed by cystatin C,proteinuria and microalbuminuria.Results of NGAL and urinary creatinine do not indicate good predictors of renal impairment.Although 72.5% patients were receiving ERT,similar results were found when comparing individuals with and without ERT with controls,suggesting that the treatment does not seem to have influences on the evaluated parameters.When comparing the results of FD receiving or not TRE with the control volunteers without kidney disease,there was a significant statistical difference for the results of NGAL,microalbuminuria and proteinuria.Microalbuminuria and proteinuria are widely accepted as one of the evidences for starting TRE in FD patients.Since NGAL has already been described as a potential biomarker of inflammation,it might help to explain the higher results of this biomarker in FD patients when compared to control groups.


Considering the biomarkers proposed,serum B2M was the best renal biomarker for renal follow-up in FD patients,followed by cystatin C.Moreover,TRE does not seem to have influences on biomarkers results.