• Eur. J. Pediatr. · Oct 2017

    Multicenter Study

    Fabry disease in children: a federal screening programme in Russia.

    • Leyla Seymurovna Namazova-Baranova, Alexander Alexandrovich Baranov, Aleksander Alekseevich Pushkov, and Kirill Victorovich Savostyanov.
    • Institute of Paediatrics, Federal State Autonomous Institution "National Medical Research Center of Children's Health" of the Ministry of Health of the Russian Federation, Lomonosovsky prospekt, 2, b.1, 119991, Moscow, Russia. namazova@nczd.ru.
    • Eur. J. Pediatr. 2017 Oct 1; 176 (10): 1385-1391.

    AbstractOur objective was to examine the prevalence of Fabry disease in Russian children with chronic pain in the distal limbs. This non-interventional, multi-centre study included children 2-18 years of age with chronic recurrent unilateral or bilateral pain, burning, or acroparesthesia in the hands or feet. The presence of Fabry disease was defined by abnormal alpha-galactosidase A activity in males or alpha-galactosidase gene (GLA) mutation in females. Among 214 patients (110 males), 84.1% had bilateral limb pain and 31.8% had unilateral limb pain recorded at some time point; 61 (28.5%) patients had a positive family history possibly associated with Fabry disease. Alpha-galactosidase A activity was within the normal range in all 109 of the male patients tested. One female patient had a GLA mutation (C937G > T) and alpha-galactosidase A activity within the normal range.

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