Russian Journal of Child NeurologyRussian Journal of Child NeurologyРусский журнал детской неврологии2073-88032412-9178Publishing House ABV Press22710.17650/2073-8803-2017-12-3-51-57REVIEWS AND LECTURESОБЗОРЫ И ЛЕКЦИИNEUROLOGICAL MANIFESTATIONS OF FABRY DISEASE IN CHILDREN AND ADOLESCENTSНеврологические проявления болезни Фабри у детей и подростковKotovA. S.ФирсовК. В.
Russian Federation

61/2 Shchepkina St., Moscow 129110

129110 Москва, ул. Щепкина, 61/2

FirsovK. V.КотовА. С.
Russian Federation

61/2 Shchepkina St., Moscow 129110

129110 Москва, ул. Щепкина, 61/2

alex-013@yandex.ruMoscow Regional Research and Clinical Institute named after M.F. VladimirskiyГБУЗ МО «Московский областной научно-исследовательский клинический институт им. М.Ф. Владимирского»1507201712351570112201701122017Copyright ©; 2017, ABV-PressCopyright ©; 2017, АБВ-пресс2017ABV-PressАБВ-прессhttps://rjdn.abvpress.ru/jour/about/editorialPolicieshttps://rjdn.abvpress.ru/jour/article/view/227

Fabry disease (Anderson–Fabry disease) is an X-linked recessive lysosomal storage disorder resulting from deficient activity of lysosomal hydrolase, alpha-galactosidase A, which leads to progressive accumulation of globotriaosylceramide (Gb3) in various cells (predominantly endothelial and vascular smooth muscle cells) with clinical manifestations affecting major organs including the central nervous system. Clinical onset of Fabry disease usually occurs in childhood, but many patients are diagnosed in adulthood. Early recognition of symptoms, enzyme activity levels, concentration of Gb3 in the blood, urine and skin bioptates, as well as genetic testing (GLA gene) enable establishment of early diagnosis and therapeutic intervention with enzyme replacement therapy. Early therapy may prevent complications of the disease.

Болезнь Фабри (болезнь Андерсона–Фабри) – Х-сцепленная рецессивная лизосомальная болезнь накопления, возникающая вследствие недостаточной активности лизосомальной гидролазы (альфа-галактозидазы А), приводящей к прогрессирующей аккумуляции глоботриаозилцерамида (Gb3) в различных клетках (преимущественно эндотелиальных и гладкой мускулатуры сосудов) с поражением различных органов, включая центральную нервную систему. Клинические проявления заболевания начинаются в детстве, но у многих пациентов оно диагностируется только во взрослом состоянии. Раннее распознавание симптомов, определение уровня активности ферментов, концентрации Gb3 в крови, моче и биоптатах кожи, генетическое тестирование (ген GLA) дают возможность осуществлять раннюю диагностику и ферментзаместительную терапию, которая позволяет стабилизировать или редуцировать прогрессирование болезни. Благодаря раннему началу терапии возможно предотвратить развитие осложнений.

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