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Нервно-мышечные болезни

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Поздняя форма болезни Помпе: диагностические и терапевтические подходы


https://doi.org/10.17650/2222-8721-2012-0-3-20-32

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Аннотация

Болезнь Помпе — клинически гетерогенное заболевание, в основе патогенеза которого лежит избыточное накопление гликогена лизосомами в результате мутации гена GAA и потери активности фермента кислой α‑глюкозидазы. Неонатальная форма заболевания, проявляющаяся сердечной, дыхательной и печеночной недостаточностью, имеет неблагоприятный прогноз. Поздние, медленно прогрессирующие хронические формы, проявляющиеся в возрасте после 1 года жизни с преимущественным поражением скелетной и дыхательной мускулатуры, имеют более благоприятное течение. Понимание и уточнение тонкостей патофизиологических процессов при болезни Помпе, а также разработка заместительной энзимотерапии (ЗЭТ) вызвали новую волну интереса к данной патологии. При ранних формах ЗЭТ имеет достаточно высокую эффективность в отличие от пациентов с поздними формами, что объясняется уже имеющимися значительными нарушениями клеточных и тканевых функций в результате избыточного накопления гликогена. С целью улучшения прогноза при поздних формах заболевания требуется как можно более раннее назначение ЗЭТ, что возможно только при своевременной постановке диагноза. Основным и самым простым способом диагностики болезни Помпе является определение активности фермента по сухому кровяному пятну. Вопрос о том, следует ли проводить ЗЭТ всем пациентам с поздней формой заболевания, остается открытым.

Об авторе

Claude Desnuelle
Центр нервно-мышечных болезней, Университетский госпитальный Центр Медицинский факультет, Ницца, Франция
Россия


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Для цитирования:


Desnuelle C. Поздняя форма болезни Помпе: диагностические и терапевтические подходы. Нервно-мышечные болезни. 2012;(3):20-32. https://doi.org/10.17650/2222-8721-2012-0-3-20-32

For citation:


. . Neuromuscular Diseases. 2012;(3):20-32. (In Russ.) https://doi.org/10.17650/2222-8721-2012-0-3-20-32

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