Akademik Veri Yönetim Sistemi
CLINICAL NEPHROLOGY, cilt.85, sa.3, ss.165-172, 2016 (SCI-Expanded)
Background: Detection of potential Fabry disease patients before appearance of life-threatening findings is of great importance, particularly in high-risk populations. This study was designed to determine prevalence of Fabry disease among Turkish patients undergoing peritoneal dialysis and hemodialysis for chronic renal failure (CRF). Methods: A total of 1,527 patients (mean (SD) age: 60.2 (14.2) years, 55.5% were males) on hemodialysis (n = 1,435) or peritoneal dialysis (n = 92) for CRF were included in this multicenter study conducted at 17 dialysis centers across Bursa province, Turkey. Prevalence of the disease was determined using combined enzymatic and genetic strategy with measuring the activity of alpha-galactosidase A (alpha-Gal A) and Sanger sequence analysis based genotyping in alpha-galactosidase A gene (GLA) in dried blood samples (DBS). Results: Overall alpha-Gal A activity was determined to be below the reference value in 130 (8.5%) of 1,527 patients. GLA genotyping confirmed the diagnosis of Fabry disease in 5 (0.3%) patients with low alpha-Gal A activity. All Fabry-positive patients were males corresponding to a 0.6% prevalence of disease in this gender. Conclusion: In conclusion, our findings, which were based on the use of DBS for both enzymatic activity and genotyping analyses, revealed the diagnosis of Fabry disease in 5 males corresponding to overall 0.3% prevalence of disease in the cohort and 0.6% prevalence among males. Our results support the likelihood of unrecognized Fabry disease in a non-negligible number of patients on dialysis and thus emphasize the value of screening studies in terms of detection of new cases and improved prognosis of the disease via early diagnosis and treatment.