J Educ Res Nurs. 2022; 19(4): 484-488 | DOI: 10.5152/jern.2021.93357

Agalsidase Alpha and Agalsidase Beta Effect in Fabry Disease

Nazlı Melis Misyağcı¹, Çiğdem Müge Haylı², Lale Ayşegu&776;l Büyükgönenç^3
1Department of First and Emergency Aid, İstanbul Kent University Faculty of Health Services, İstanbul, Turkey
²Department of Nursing, Hakkari University Faculty of Health Sciences, Hakkari, Türkiye
³Department of Nursing, Cyprus Science University, Graduate Education and Research Institute, Kyrenia, TRNC

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.

Keywords: Rare diseases, Fabry disease, enzyme replacement therapy (ERT), oral chaperone, nursing care

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