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

Autor: Namazova-Baranova LS; 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., Baranov AA; 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., Pushkov AA; Laboratory of Molecular Genetics and Cell Biology, Federal State Autonomous Institution 'Scientific Center of Children's Health' of the Ministry of Health of the Russian Federation, Moscow, Russia., Savostyanov KV; Laboratory of Molecular Genetics and Cell Biology, Federal State Autonomous Institution 'Scientific Center of Children's Health' of the Ministry of Health of the Russian Federation, Moscow, Russia.
Jazyk: angličtina
Zdroj: European journal of pediatrics [Eur J Pediatr] 2017 Oct; Vol. 176 (10), pp. 1385-1391. Date of Electronic Publication: 2017 Sep 04.
DOI: 10.1007/s00431-017-2992-y
Abstrakt: Our 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.
Conclusion: We did not find definitive evidence of Fabry disease in these children with a history of chronic recurrent unilateral or bilateral limb pain or acroparesthesia. The presence of chronic limb pain does not appear to be highly predictive of a diagnosis of Fabry disease in Russian children and adolescents, suggesting that key early signs and symptoms of Fabry disease are not specific to the disease. What is Known: • Signs and symptoms of Fabry disease are seen in children < 10 years of age; pain in the distal limbs is a common early symptom. What is New: • Fabry disease was not diagnosed in this population of Russian children with a history of chronic limb pain. • The presence of acroparesthesia or chronic limb pain does not appear to be highly predictive of a diagnosis of Fabry disease in Russian children and adolescents, suggesting that these early symptoms of Fabry disease are not specific to the disease.
Databáze: MEDLINE
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