РОЛЬ ГЕНЕТИЧЕСКИХ ИССЛЕДОВАНИЙ В ДИАГНОСТИКЕ РАЗЛИЧНЫХ ФОРМ ТРОМБОЦИТОПЕНИИ У ДЕТЕЙ (ОБЗОР ЛИТЕРАТУРЫ)
Ключевые слова:
Иммунная тромбоцитопения, дети, генетическое исследование, секвенирование нового поколения.Аннотация
Иммунная тромбоцитопеническая пурпура (ИТП) является одной из самых частых иммунных гемопатий, в развитии которой ведущую роль играют антитела, направленные против узкого спектра тромбоцитарных антигенов. Несмотря на то, что смертность при хронической ИТП невелика (не более 1%), заболевание драматически снижает качество жизни пациента и зачастую требует сложного и дорогого лечения. большой проблемой диагностика и лечение хронических форм заболевания, под маской которых часто могут скрываться наследственные тромбоцитопении или первичные иммунодефициты (ПИД). В последнее время применение высокопроизводительного секвенирования (HTS) улучшило диагностику наследственных тромбоцитопений. При применении секвенирования выявлено 33 различных формы наследственных тромбоцитопений, вызванных молекулярными дефектами, затрагивающими по меньшей мере 32 гена; также были более подробно изучены патогенетические механизмы тромбоцитопении и разработаны терапевтические опции.
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