Akademik Veri Yönetim Sistemi
Akdeniz Tıp Dergisi, cilt.10, sa.1, ss.92-99, 2024 (Hakemli Dergi)
Objective: The aim of the present study was to identify patients with chronic kidney disease of unknown etiology or of other detected etiology among those who were undergoing hemodialysis in the Western Mediterranean region and to detect the prevalence of Fabry mutation in these patients. In addition, we aimed to screen the family members of the cases with mutations in our study. Methods: A total of 664 patients over the age of 18 who received hemodialysis treatment in 11 different hemodialysis centers in the Western Mediterranean region of Turkey were screened. Alpha-galactosidase A enzyme levels were first tested in male patients, and for patients with alpha-galactosidase A levels < 3.3 nmol/mL/h, GLA gene sequence analysis was performed. GLA gene sequence analysis was performed directly in female patients. Results: In total 664 patients [313 (47.1%) male and 351 (52.9%) female] have been scanned. Fabry mutation was positive in eight female patients and one male patient. Conclusion: According to the output of the research, the prevalence of Fabry disease among the patients who received hemodialysis treatment was determined as 1.35%. In order to eliminate the conflicts upon whether the mutations which is effective on the etiology of Fabry disease are pseudo alleles it is required that new researches should be done, prospective scanning programs in a wider patient population and genetic consultancy and preventive medicine services should become more prevalent.