Akademik Veri Yönetim Sistemi
Journal of education and research in nursing (Online), cilt.19, sa.4, ss.484-488, 2022 (Hakemli Dergi)
Rare diseases are a group of diseases caused by genetic mutations. Fabry disease is a lysosomal storage disease with a low incidence in society and is caused by the mutation of the GLA gene above the X chromosome. Enzyme replacement therapy and oral chaperone therapy constitute the treatment of the disease. The management of Fabry disease requires the collaboration of various multidisciplinary health professionals. Because Fabry disease is chronic and progressive, the primary role of the nurse is to provide management of symptoms and help the patient and family manage the disease, as well as administer and follow up treatment.