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Том 18 №3 2016 год - Нефрология и диализ

Тромботическая тромбоцитопеническая пурпура, ассоциированная с врождённым дефицитом ADAMTS13 Обзор литературы и клиническое наблюдение


Каган М.Ю. Афанасьева Е.И. Фроленко А.Л. Резник Н.В. Савостьянов К.В. Цыгин А.Н.

Аннотация: Врожденная тромботическая тромбоцитопеническая пурпура (ТТП), известная как синдром Апшоу-Шульмана, является редким наследственным заболеванием, обусловленным дефицитом ADAMTS13. В отличие от приобретенной TTП, при которой имеются аутоантитела к ADAMTS13, у пациентов с синдромом Апшоу-Шульмана отмечается абсолютный врождённый дефицит этой протеазы. Врожденная ТТП обычно проявляется с первых месяцев жизни повторными эпизодами тромбоцитопении и микроангиопатической гемолитической анемии (МАГА). Эти эпизоды, как правило, провоцируются интеркуррентными заболеваниями или физиологическим стрессом. Инфузии свежезамороженной плазмы (СЗП) являются эффективным методом лечения данной болезни, купирующим острые эпизоды и при регулярном применении предотвращающим развитие дальнейших рецидивов. Мы представляем случай 7-летнего мальчика со врожденной ТТП, у которого отмечалось сочетание тромбоцитопении и анемии с первых месяцев жизни. Тем не менее, правильный диагноз был установлен только в возрасте 7 лет. При поступлении в нашу клинику у пациента отмечалась тромбоцитопения, МАГА, повышение уровня креатинина сыворотки и шизоциты в мазке периферической крови. Он получил инфузии СЗП в дозе 10 мл/кг на одно введение, что привело к купированию симптомов. К моменту подготовки данной статьи к печати ремиссия у пациента поддерживалась регулярными инфузиями СЗП в дозе 10 мг/кг каждые 2 недели.

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Ключевые слова: ТТП, ADAMTS13, гемолиз, синдром Апшоу-Шульмана, тромботическая микроангиопатия, TTP, ADAMTS13, hemolysis, Upshaw-Schulman, thrombotic microangiopathy

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