Article detail · 2017
Screening Fabry s disease in chronic kidney disease patients not on dialysis a multicenter study
- Year
- 2017
- Type
- article
Data source split
- YÖKSİS YÖKSİS article record
- YÖKSİS venue Renal Failure
- Catalog match (ISSN) Renal Failure
- OpenAlex OpenAlex enrichment (abstract, citations, topics)
Abstract
OpenAlex · English
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: , 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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Citations
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39 citations
OpenAlex cited_by_count (cache / database)
8 publications in the local catalog that cite this work (OpenAlex reference match; not the full global list).
- Fabry Disease Screening in Patients With Kidney Transplant: A Single-Center Study in Turkey 2020
- Genetic Management Algorithm in High-Risk Fabry Disease Cases; Especially in Female Indexes with Mutations 2020
- Genetic Management Algorithm in High-Risk Fabry Disease Cases especially in Female Indexes with Mutations 2020
- Screening for Fabry Disease in Patients Who Underwent Renal Biopsy and Identification of a Novel Mutation 2021
- Screening for Fabry Disease in Patients Who Underwent Renal Biopsy and Identification of a Novel Mutation 2021
- The Frequency of Fabry Disease in Acute Stroke Patients with Renal Insufficiency in Sakarya Province 2023
- What Is the Role of Sensorineural Hearing Loss in Fabry Disease Screening? 2023
- What Is the Role of Sensorineural Hearing Loss in Fabry Disease Screening? 2023