Yavuz Yeniçerioğlu1, Hakan Akdam1, Belda Dursun2, Alper Alp1, Funda Sağlam Eyiler3, Davut Akın4, Yelda Gün3, Bülent Hüddam5, Mehmet Batmazoğlu4, Dilek Gibyeli Genek5, Serhat Pirinççi6, İsmail Rıfkı Ersoy7, Atilla Üzüm7, Zeki Soypaçacı7, Mehmet Tanrısev8, Hülya Çolak8, Sibel Demiral Sezer8, Gökay Bozkurt9, Utku Oğan Akyıldız10, Ayşe İpek Akyüz Ünsal11, Mustafa Ünübol12, Meltem Uslu13, Ufuk Eryılmaz14, Ceren Günel15, İbrahim Meteoğlu16, İrfan Yavaşoğlu17, Alparslan Ünsal18, Harun Akar8, Pınar Okyay6. 1. a Department of Internal Medicine, Division of Nephrology , Adnan Menderes University School of Medicine , Aydın , Turkey. 2. b Department of Internal Medicine, Division of Nephrology , Pamukkale University School of Medicine , Denizli , Turkey. 3. c Aydın State Hospital Nephrology , Aydın , Turkey. 4. d Denizli State Hospital Nephrology , Denizli , Turkey. 5. e Department of Nephrology , Muğla Sıtkı Koçman University Education and Research Hospital , Muğla , Turkey. 6. f Department of Public Health , Adnan Menderes University School of Medicine , Aydın , Turkey. 7. g Department of Nephrology, İzmir Katip Çelebi University Education and Research Hospital , İzmir , Turkey. 8. h Department of Nephrology , İzmir Tepecik Education and Research Hospital Internal Medicine , İzmir , Turkey. 9. i Department of Genetics , Adnan Menderes University School of Medicine , Aydın , Turkey. 10. j Department of Neurology , Adnan Menderes University School of Medicine , Aydın , Turkey. 11. k Department of Ophthalmology , Adnan Menderes University School of Medicine , Aydın , Turkey. 12. l Department of Internal Medicine, Division of Endocrinology , Adnan Menderes University School of Medicine , Aydın , Turkey. 13. m Department of Dermatology , Adnan Menderes University School of Medicine , Aydın , Turkey. 14. n Department of Cardiology , Adnan Menderes University School of Medicine , Aydın , Turkey. 15. o Department of Otorhinolaryngology , Adnan Menderes University School of Medicine , Aydın , Turkey. 16. p Department of Pathology , Adnan Menderes University School of Medicine , Aydın , Turkey. 17. q Department of Internal Medicine, Division of Hematology , Adnan Menderes University School of Medicine , Aydın , Turkey. 18. r Department of Radiology , Adnan Menderes University School of Medicine , Aydın , Turkey.
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.
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 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 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.
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