Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press13810.17650/2222-8721-2016-6-1-54-62LECTURES AND REVIEWSЛЕКЦИИ И ОБЗОРЫLaboratory studies and Pompe disease: from suspicion to therapy monitoringЛабораторные исследования и болезнь Помпе: от подозрения до мониторинга терапииSavost’yanovK. V.СавостьяновК. В.
Russian Federation
NikitinS. S.НикитинС. С.
Russian Federation
KarpachevaK. E.КарпачёваК. Е.
Russian Federation
klavdiya.karpacheva@sanofi.comLaboratory of Molecular Genetics and Cell Biology Scientific Center of Children’s HealthЛаборатория молекулярной генетики и клеточной биологии ФГАУ «Научный центр здоровья детей» Минздрава РоссииBuild 1, 2 Lomonosovskiy prospekt, Moscow, 119991, RussiaРоссия, 119991, Москва, Ломоносовский проспект, 2 стр. 1Society of Experts in Neuromuscular Diseases, Medical Center “Practical Neurology”Региональная общественная организация «Общество специалистов по нервно-мышечным болезням», Медицинский центр «Практическая неврология»Build. 2, 17 Krzhizhanovskogo St., Моscow, 117218, RussiaРоссия, 117218, Москва, ул. Кржижановского, 17, корп. 2Representative Office, Sanofi Aventis Group22 Tverskaya St., Moscow, 125009, RussiaПредставительство АО «Санофи-авентис груп»Россия, 125009, Москва, ул. Тверская, 22290320166154622903201629032016Copyright ©; 2016, Savost’yanov K.V., Nikitin S.S., Karpacheva K.E.Copyright ©; 2016, Савостьянов К.В., Никитин С.С., Карпачёва К.Е.2016Savost’yanov K.V., Nikitin S.S., Karpacheva K.E.Савостьянов К.В., Никитин С.С., Карпачёва К.Е.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/138

Pompe disease (PD) is a rare, progressive, commonly fatal inherited autosomal recessive disease that is difficult to diagnose due to its obvious clinical heterogeneity and low awareness among physicians. Access to the laboratory diagnosis of rare diseases increases every year. In the past several years, Russian and foreign laboratories have achieved considerable success in accelerating and improving the diagnostic accuracy of PD. Unfortunately, the Russian-language literature contains scarce relevant information on the laboratory diagnosis of PD. This review is to fill up this gap. 

Болезнь Помпе (БП) – редкое, прогрессирующее, часто фатальное наследственное аутосомно-рецессивное заболевание, диагностика которого затруднена высокой гетерогенностью клинических проявлений и низкой осведомленностью врачей. Доступность лабораторной диагностики редких болезней растет с каждым годом, и БП не является исключением. Лаборатории России и мира за последние несколько лет достигли значительных успехов в ускорении и увеличении точности диагностики БП. К сожалению, в русскоязычной литературе недостаточно актуальной информации о лабораторной диагностике БП. Данный обзор призван заполнить этот пробел. 

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