Please use this identifier to cite or link to this item:
https://hdl.handle.net/11499/8851
Title: | Screening Fabry’s disease in chronic kidney disease patients not on dialysis: A multicenter study | Authors: | Yeniçerioğlu, Y. Akdam, H. Dursun, Belda Alp, A. Eyiler, F.S. Akın, D. Gün, Y. |
Keywords: | Chronic kidney disease Fabry’s disease Globotriaosylceramide Lysosomal storage ?-galactosidase A alpha galactosidase adult Article chronic kidney failure creatinine clearance dialysis differential diagnosis dried blood spot testing enzyme activity enzyme analysis Fabry disease female gene mutation genetic analysis hematuria human major clinical study male middle aged multicenter study prevalence priority journal proteinuria aged blood clinical trial complication cross-sectional study genetics kidney mass screening pathology pedigree Turkey Adult Aged alpha-Galactosidase Cross-Sectional Studies Fabry Disease Female Humans Kidney Male Mass Screening Middle Aged Pedigree Proteinuria Renal Insufficiency, Chronic |
Publisher: | Taylor and Francis Ltd | Abstract: | Objectives: Fabry's disease is an X-linked inherited, rare, progressive, lysosomal storage disorder, affecting multiple organs due to the deficient activity of ?-galactosidase A (?-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 ?-Gal A enzyme and genetic analysis was performed in individuals with enzyme activity ?1.2µmol/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 60mL/min/1.73 m2, 8.4% had proteinuria, and 2.5% had isolated microscopic hematuria. The mean value of patients’ ?-Gal A enzyme was detected as 2.93±1.92µmol/L/h. 152 patients had low levels of ?-Gal A enzyme activity (?1.2µmol/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. © 2016 The Author(s). | URI: | https://hdl.handle.net/11499/8851 https://doi.org/10.1080/0886022X.2016.1254656 |
ISSN: | 0886-022X |
Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
Files in This Item:
File | Size | Format | |
---|---|---|---|
Screening Fabry s disease in chronic kidney disease patients not on dialysis a multicenter study.pdf | 1.5 MB | Adobe PDF | View/Open |
CORE Recommender
SCOPUSTM
Citations
32
checked on Dec 21, 2024
WEB OF SCIENCETM
Citations
27
checked on Dec 20, 2024
Page view(s)
40
checked on Aug 24, 2024
Download(s)
26
checked on Aug 24, 2024
Google ScholarTM
Check
Altmetric
Items in GCRIS Repository are protected by copyright, with all rights reserved, unless otherwise indicated.