PrevalenceandclinicalfeaturesofFabrydisease indialysispatients

Aim

Toevaluateprevalence and clinical features of Fabry disease identified via screening in the Russian dialysis patients.

Material and methods

Screening for Fabry disease was performed by measuring the α-galactosidase A enzyme activity in the dried blood spots or plasma by tandem mass-spectrometry in the consecutive patients in dialysis units. Diagnosis in all patients was confirmed by genetic testing.

Results

We screened 5572 dialysis patients (3351 males and 2021 females) in the different regions of the Russian Federation. Fabry disease was diagnosed in 20 (0.36%) patients, including 19 males and 1 female aged fo 28 to 58 years (median age 42 years). In 6 patients (30.0%), the duration of chronic kidney disease prior to initiation of renal replacement therapy was unknown, while the remaining patients started dialysis within 3 to 13 years (median of 4 years) after proteinuria was first detected. In the majority of patients, renal replacement therapy was initiated at the age of 20 to 49 years. Sixteenof20 patients(80.0%) presentedwith classic symptoms of Fabry disease from childhood (neuropathic pain in 16, angiokeratoma in 7 and hypohidrosis/ anhidrosis in 16). All patients had left ventricular hypertrophy on echocardiography, and 8 (40.0%) patients presented with a history of stroke (one of them died from recurrent stroke).

Conclusion

The majority of dialysis patients with Fabry disease that was detected by screening had early symptoms from childhood. A higher awareness of the Fabry disease among nephrologists is essential for timely diagnosis.

Key words

Fabry disease, screening, hemodialysis, kidney transplantation.