Screening Fabry’s disease in chronic kidney disease patients not on dialysis: a multicenter study

AbstractObjectives: Fabry's diseaseis an X-linked inherited, rare, progressive, lysosomal storage disorder, affecting multiple organs due to the deficient activity of α-galactosidase A (α-Gal A) enzyme. The prevalence has been reported to be 0.15–1% in hemodialysis patients; however, the information on the prevalence in chronic kidney diseasenot on dialysis is lacking. This study aimed to determine the prevalence of Fabry’s diseasein chronic kidney disease.Methods: The patients older than 18 years, enclosing KDIGO 2012 chronic kidney diseasedefinitions, not on dialysis, were enrolled. Dried blood spotson Guthrie papers were used to analyze α-Gal A enzyme and genetic analysis was performed in individuals with enzyme activity ≤1.2 μmol/L/h.Results: A total of 1453 chronic kidney diseasepatients not on dialysis from seven clinics in Turkey were screened. The mean age of the study population was 59.3 ± 15.9 years. 45.6% of patients were female. The creatinine clearance of 77.3% of patients was below 60 ...