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Kidney transplantation (KT) should be considered early in Fabry disease (FD) and end-stage chronic kidney disease (ESRD), due to the evidence reported by numerous authors regarding the safety and effectiveness treatment and the greater survival of these patients when they are compared to those who remain on dialysis. In addition, the long-term survival is higher, both in patients and grafts, when comparing cohorts of FD kidney transplant recipients versus patients with other nephropathies. In consequently, KT is the better treatment in ESRD, and compared versus chronic dialysis, improves the quality of life and reduces the mortality among majority of patients, both those who affected by FD as well as those who develop ESRD for another etiology. In our transplant center we have experience in FD management. Screening is performed in the first evaluation, interview before KT of each patient in whom FD is suspected. In Transplant Units where screening studies are performed in men for FD, the prevalence is very low, less than 1%.
Cross-sectional epidemiological study. α-GalA activity was measured by fluorometric method in male patients with ESRD, requiring dialysis. They attended to start pre-kidney transplant studies in two Transplant Units in Argentina.
256 males patients were studied. Mean age: 47.24 years. 100% of the patients presented normal α-GalA activity.
The results of a null screening are presented. This result is probably due to the low number of patients and the low incidence of FD.
Furthermore, as we have great experience in the diagnosis and management of FD, patients are diagnosed based on clinical suspicion and not through screening.