Неврологические проявления болезни Фабри у детей и подростков
https://doi.org/10.17650/2073-8803-2017-12-3-51-57
Аннотация
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.
Ключевые слова
Об авторах
К. В. Фирсов
ГБУЗ МО «Московский областной научно-исследовательский клинический институт им. М.Ф. Владимирского»
Россия
129110 Москва, ул. Щепкина, 61/2
Россия
129110 Москва, ул. Щепкина, 61/2
А. С. Котов
ГБУЗ МО «Московский областной научно-исследовательский клинический институт им. М.Ф. Владимирского»
Россия
129110 Москва, ул. Щепкина, 61/2
Россия
129110 Москва, ул. Щепкина, 61/2
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Рецензия
Для цитирования:
Фирсов К.В., Котов А.С. Неврологические проявления болезни Фабри у детей и подростков. Русский журнал детской неврологии. 2017;12(3):51-57. https://doi.org/10.17650/2073-8803-2017-12-3-51-57
For citation:
Kotov A.S., Firsov K.V. NEUROLOGICAL MANIFESTATIONS OF FABRY DISEASE IN CHILDREN AND ADOLESCENTS. Russian Journal of Child Neurology. 2017;12(3):51-57. (In Russ.) https://doi.org/10.17650/2073-8803-2017-12-3-51-57
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