Made by: Karolina Moćko, Prof. dr hab. n med Piotr Rozentryt
Shortcuts: α-GAL – α-galactosidase, ETZ – enzyme replacement therapy, lyso-Gb3 – deacylated form of globotriaozylsphingosine, CKD – chronic kidney disease
Fabry disease affects many systems in the body, and the nature and severity of symptoms vary from patient to patient. The main causes of morbidity and mortality among affected patients are renal, cardiovascular and cerebrovascular symptoms.1-3 In contrast, the prevalence of Fabry disease among patients with CKD undergoing hemodialysis is estimated to be 0.2%. Therefore, researchers from Australia decided to look at the prevalence of Fabry disease in a selected group of CKD patients.
Methods: cross-sectional study conducted in 2017-2019
Population: 3,000 adult patients (mean age 64 years, 58% male) with CKD stage 1–5 in nephrology specialty care by Queensland Health, Australia, eligible for Medicare universal health care.
Method details: All CKD patients were tested for α-GAL activity in dried blood spot, lyso-Gb3 concentration in plasma was determined and genetic tests were performed to diagnose Fabry disease. People whose results were outside the reference range were excluded: in the case of women – control tests for plasma lyso-Gb3 concentration in parallel with genetic tests, for men – control genetic tests. In the event of a possible issue of sample quality, patients were asked to repeat the α-GAL activity of dried blood and/or the measurement of plasma concentration of lyso-Gb3. The diagnosis of the disease was confirmed by genetic tests (analysis of the entire coding sequence of the GLA gene). In patients with a preliminary diagnosis of Fabry disease, confirmation was made by determining the concentration of lyso-Gb3 in plasma.
In this study, a cascade study was conducted. This means that family members at risk were offered genetic counseling and screening. Patients with new Fabry disease were referred for further investigation and possible ETT initiation.