Determi̇ni̇ng the prevalence of fabry di̇sease among chroni̇c ki̇dney pati̇ents i̇n hemodi̇alyses programs

Fabry disease is a rare cause of chronic kidney disease. It affects multisystems and has non-specific symptoms. Hence, it is not suspected primarily and it is very easy to fail to detect it at clinics. By following the previous similar studies, this study's aims are that investigating the prevalence of Fabry disease among Chronic Kidney disease patients who receive hemodialysis treatment, screening the family members of the patients whose mutation values are positive and providing genetic consultancy and preventive medicine services to the patients. In total 664 patients have been scanned in 11 different hemodialysis. All female patients GLA gene series analysis by 'Sanger' Method observed. All male patients alpha-galactosidase A enzyme level observed primarily using ELISA Method. The male patients whose alpha-galactosidase A < 3,3 nmol/ml, GLA gene series analysis observed by Sanger Method and confirmed that 9 patients were diagnosed with Fabry disease. The family members of the patients diagnosed with Fabry disease, with a written approval, are genetically scanned to determine whether they have Fabry disease or not. The patients and the family members who have mutation have went through EKG, echocardiography scanning and neurologic, dermatologic, cardiologic, nephrologic and ophthalmic examinations. Their treatments have been organized. Genetic consultancy services have been provided. According to the output of the research, the prevalence of Fabry disease among the patients who receive hemodialysis treatment determined 1.4%. 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. Key Words: Chronic Kidney Disease, The Etiology of Hemodialysis, Fabry Disease, Alpha-Galactosidase A, GLA Gene Mutation