Тромбоцитарные нарушения гемостаза: как прийти к диагнозу?

Введение. Тромбоцитопения может быть первичной и является поводом для дифференциальной диагностики наследственных функциональных дефектов тромбоцитов.

Цель: представить трудности верификации диагноза при нарушении тромбоцитарного звена гемостаза.

Основные сведения. Представлено клиническое наблюдение за 28-летней больной, обратившейся в связи со скудным кожно-слизистым геморрагическим синдромом и умеренной тромбоцитопенией, имеющей семейный характер. Больной были проведены все доступные рутинные и альтернативные методы исследования тромбоцитарных нарушений. Решающим методом в диагностике заболевания оказалось полногеномное секвенирование, которое в сопоставлении с морфологическими и функциональными исследованиями является перспективным инструментом для дифференциальной диагностики гетерогенных тромбоцитарных нарушений.

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