Abstract
Objectives: Fabry's disease is 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 disease not on dialysis is lacking. This study aimed to determine the prevalence of Fabry’s disease in chronic kidney disease.Methods: The patients older than 18 years, enclosing KDIGO 2012 chronic kidney disease definitions, not on dialysis, were enrolled. Dried blood spots on 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 disease patients 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 mL/min/1.73 m2, 8.4% had proteinuria, and 2.5% had isolated microscopic hematuria. The mean value of patients’ α-Gal A enzyme was detected as 2.93 ± 1.92 μmol/L/h. 152 patients had low levels of α-Gal A enzyme activity (≤1.2 μmol/L/h). In mutation analysis, A143T and D313Y variants were disclosed in three male patients. The prevalence of Fabry’s disease in chronic kidney disease not on dialysis was found to be 0.2% (0.4% in male, 0.0% in female).Conclusion: Fabry’s disease should be considered in the differential diagnosis of chronic kidney disease with unknown etiology even in the absence of symptoms and signs suggestive of Fabry’s disease.
Highlights
Fabry’s disease (OMIM #301500) is an X-linked inherited, rare disorder
A total of 1453 chronic kidney disease patients, not on dialysis, from seven nephrology clinics located at Aydın, Table 1
In the study population, decreased creatinine clearance, proteinuria and isolated microscopic hematuria were the main criteria of enrollment in the study in 77.3%, 8.4% and 2.5% of patients, respectively
Summary
Fabry’s disease (OMIM #301500) is an X-linked inherited, rare disorder. The disease is progressive and affects multiple organs, the heart, the kidney, and the central nervous system. It causes varying degrees of organ dysfunction due to lysosomal glycosphingolipid accumulation. The gene involved in Fabry’s disease is located on X chromosome in the position Xq22 and Department of Internal Medicine, Division of Nephrology, Faculty of Medicine, Adnan ß 2016 The Author(s).
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