Clinical manifestations and outcomes in patients with Fabry disease and end-stage renal failure

Aim: to describe clinical manifestations and outcomes in patients with Fabry disease (FD) and end-stage renal failure (ESRD) and to compare mortality in dialysis patients with FD and other kidney diseases. Methods: We recruited adult (over 18 years) patients with FD that was confirmed by enzymatic and genetic studies. ESRD was defined according to KDIGO guidelines (2012). Results: We studied 100 patients with FD. Thirty-three (32 males, 1 female) of them had ESRD. The median age of the ESRD patients was 44 (35.5; 51) years. ESRD occurred before other severe organ manifestations (e.g. stroke, clinically significant arrhythmia and cardioverter/pacemaker implantation) in 30 (90.9%) patients. The median age of initiation of renal replacement therapy (RRT) was 39 (32.5; 44.5) years. Eleven (33.3%) males died at the median age of 43 (37; 46) years. The most frequent cause of death was sudden cardiac death (n=9). Five patients received enzyme replacement therapy during 36 months (range 11-59 months). The duration of follow-up for dialysis FD patients was 149.1 person-years. Mortality rate was 7.38 (confidence interval 95% [CI] 7.33-7.42) per 100 person-years for FD patients. According to the Russian RRT Registry, mortality was 13.1 (CI 95% 11.9-14.3) per 100 person-years in diabetes patients, 5.4 (CI 95% 5.0-5.7) per 100 person-years in patients with chronic glomerulonephritis, and 4.8 (CI 95% 4.2-5.4) per 100 person-years in patients with polycystic kidney disease. Conclusion: ESRD occurred in 33% of patients with FD. High prevalence of ESRD could be explained by effect of the screening program for FD in Russian dialysis centers. Mortality in FD patients was lower than in patients with diabetic and hypertensive nephropathy, although higher than in patients with other causes of ESRD.

болезнь Фабри, нефропатия Фабри, терминальная стадия хронической почечной недостаточности, заместительная почечная терапия, Fabry disease, Fabry nephropathy, end-stage renal disease, renal replacement therapy

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