Screening of frequency of fabry disease on patients who are constantly followed (by opening the file) in nephrology clinic

In this study we evaluated 950 patients who were followed in the nephrology clinic of Ege University Medical Faculty Hospital and we collected blood from those who had the possibility of Fabry disease according to the questionnaire and we performed Fabry gene mutations in female patients and Fabry disease in male patients by looking at AGAL level. To determine the frequency of this disease, which is often unrecognized, in the nephrology policlinic population, to determine the groups of patients to be evaluated in terms of Fabry's diagnosis according to symptoms, and to find out by treating the patient with Fabry's disease; we aimed to make early diagnosis in some patients with family screening. In the study, a patient with Fabry disease was not assessed and a genetic mutation was detected in a female patient. The diagnosis of the patient could not be completed because the patient with a genetic variant evaluated by some authors as having genetic variant additionally received an amyloidosis-myeloma diagnosis and the patient was lost before the follow-up examination and family relatives refused to perform the examination.