SP028SCREENING THE FABRY DISEASE IN HEMODIALYSIS POPULATION: A MULTI-CENTERED STUDY
Makaleler > Tam Makale · 2019
Yazarlar: Cigdem Dinckal, Ender Hur, Davut Akın, Barıs Emekdas, Funda Saglam, Yelda Gun, Oguzcan Ozkan, Emine Mercan, Huseyin Taskın, Ozlem Yayar, Gursel Yıldız, Eyup Kulah, Siren Sezer, Soner DUMAN
Nephrology Dialysis Transplantation, Uluslararası, Wos, 2019, cilt 34
Özet
INTRODUCTION: Fabry disease is X-linked recessively inherited multisystem diseasecaused by decreased activity of alpha-Galactosidase A (AGAL) enzyme. It is difficult to diagnose due to atypical forms, so the true incidence and prevalence of Fabry disease is not clear. Inherited diseases requiring renal replacement therapyis about 10%. In present studyour aim was to investigate the frequency of Fabry disease in patients receiving chronic hemodialysis (HD) treatment. METHODS: Study protocol was approved by the Local Ethics Committee of Ege University Medical School. Patients,aged between 18-75 years for at least 3 months of HD treatment were included in the study. Dry blood samples taken into Guthre paper used for the measurement of α-galactosdase A enzyme activity and genetic analysis was performed. All samples were studied at Archimedes Life Science GmbH Laboratories Vienna, Austria. RESULTS: A total of 3301 patients from 11 HD units were included. The mean age was 59.6 ± 15.4. Of the patients, 1926 (49%) were male. We found genetic mutations in 2 male patients. The mean alpha-galactosidase levels of the remaining 3299 patients was 3.1 (st 2.2) micromol/L/h AGAL. In females, 3.0 micromol/L/h and in males it was 3.1 micromol/L/h. The frequency of Fabry disease was found as 0.062% (2/3301). CONCLUSIONS: Fabry disease is usually misdiagnosed or unrecognized. In our study, the incidence was found to be 0.06%. Fabry disease should be considered in patients with unknown renal failure.