Fabry disease in dialysis patients
https://doi.org/10.28996/1680-4422-2017-3-382-388
Abstract
Aim. To evaluate the prevalence and clinical features of Fabry disease identified during screening of dialysis patients in Russia. Material and methods. Screening for Fabry disease was performed by measuring the activity of α-galactosidase A enzyme in dried blood spots or plasma by tandem mass-spectrometry in patients treated with hemodialysis. Diagnosis in all patients was confirmed by genetic test. Results. 5572 dialysis patients (3351 males and 2021 females) were screened in the different regions of the Russian Federation. Fabry disease was diagnosed in 20 (0.36%) patients, including 19 males and 1 female aged from 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 detected. In the majority of patients, renal replacement therapy was initiated at the age of 20 to 49 years. Sixteen of 20 patients (80.0%) presented with 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 a recurrent stroke). Conclusion. The majority of dialysis patients with Fabry disease detected by screening had early symptoms from childhood. A higher awareness of the Fabry disease among nephrologists is essential for timely diagnosis.
About the Authors
S. V. Moiseev
First Moscow State I.M. Sechenov Medical University; M.V. Lomonosov Moscow State University
Russian Federation
Russian Federation
L. S. Namazova-Baranova
National Scientific and Practical Center of Children Health, Ministry of Health of Russian Federation
Russian Federation
Russian Federation
K. V. Savostyanov
National Scientific and Practical Center of Children Health, Ministry of Health of Russian Federation
Russian Federation
Russian Federation
A. S. Moiseev
M.V. Lomonosov Moscow State University
Russian Federation
Russian Federation
V. V. Fomin
First Moscow State I.M. Sechenov Medical University
Russian Federation
Russian Federation
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Review
For citations:
Moiseev S.V., Namazova-Baranova L.S., Savostyanov K.V., Moiseev A.S., Fomin V.V. Fabry disease in dialysis patients. Nephrology and Dialysis. 2017;19(3):382-388. (In Russ.) https://doi.org/10.28996/1680-4422-2017-3-382-388
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