Research Information System
International Urology and Nephrology, vol.55, no.6, pp.1629-1634, 2023 (SCI-Expanded)
Background and objectives: Fabry disease (FD) is an X-linked lysosomal storage disease with various clinical symptoms due to a deficiency of an enzyme called alpha-galactosidase A. The likelihood of nephropathy increases with age and the severity of the mutation in Fabry patients. Fabry disease is difficult to diagnose. The exact incidence and prevalence of Fabry disease are unknown due to its atypical or oligosymptomatic forms. Design, setting, participants, and measurements: GLA gene mutations were examined in patients over the age of 18 who were followed up on with a diagnosis of chronic kidney disease and who had or did not receive renal replacement therapy from October 2017 to December 2019. Results: A total of 18 sites in 8 locations around Turkey volunteered to participate in the study, including people aged 18 and older with stages 1–5 of chronic kidney disease (CKD) or getting renal replacement therapy. 1904 patients were screened in total. In 13 cases, a D313Y pseudo mutation in the GLA gene was discovered. GLA gene mutations were found and pathologically assessed in four of the tested cases. Conclusions: The range of clinical symptoms of Fabry disease, as well as the frequent delays in diagnosis, result in treatment being too late. We believe that screening chronic renal patients at high risk for Fabry disease is warranted.