Chronic renal failure in Fabry disease: the long-term survival on renal replacement therapy

Aim

To evaluate survival among patients with Fabry disease (FD) depending on the type of renal replacement therapy and to investigate the efficacy of dialysis screening in the early diagnosis of FD in relatives of probands.

Material and methods

We conducted a study among adult patients with a definite diagnosis of FD. End-stage renal disease (ESRD) was defined according to KDIGO guidelines (2012). In each family we identified an index patient and his relatives who could inherit a mutant gene.

Results

ESRD was found in 50 (24.9%) of 201 patients with FD, including 48 (40.0%) of 120 males and 2 (2.7%) of 81 females. Kaplan-Meier cumulative incidence revealed rapidly increasing number of ESRD at the age of 20-30 years. Five patients received kidney transplant within 17 months (range 7-70 months) from initiation of dialysis treatment. Fifteen (33.3%) of 45 dialysis patients died at the median age of 45 (39; 58) years (all males). Nobody of kidney recipients has died. In 44 (88%) of 50 patients, FD was diagnosed during screening in the Russian dialysis units within 1 year after initiation of dialysis treatment, including one patient after kidney transplantation. Genetic testing showed FD in 89 (57%) of 156 family members (including 18 children) of probands with ESRD. 80.4% relatives had early signs of kidney involvement.

Conclusion

ESRD is a frequent complication among patients with FD and is associated with worse prognosis. Dialysis screening remains an effective way to identify probands with FD and opens an opportunity for identifying relatives with early stages of FD.

Key words

Fabry disease, end-stage renal disease, renal replacement therapy, survival, family screening.