WHIM-синдром: обзор литературы и описание двух собственных клинических наблюдений в одной семье

РЕДКИЕ ГЕМАТОЛОГИЧЕСКИЕ ЗАБОЛЕВАНИЯ И СИНДРОМЫ , , , ,

М.В. Марченко, Ю.Н. Кузнецов, А.В. Лапина, И.А. Михайлова, Т.А. Быкова, Т.С. Щеголева, В.В. Байков, А.Д. Кулагин

НИИ детской онкологии, гематологии и трансплантологии им. Р.М. Горбачевой, ФГБОУ ВО «Первый Санкт-Петербургский государственный медицинский университет им. акад. И.П. Павлова» Минздрава России, ул. Льва Толстого, д. 6/8, Санкт-Петербург, Российская Федерация, 197022

Для переписки: Мария Викторовна Марченко, ул. Льва Толстого, д. 6/8, Санкт-Петербург, Российская Федерация, 197022; тел.: +7(812)338-62-65; e-mail: mv_bogomolova@mail.ru

Для цитирования: Марченко М.В., Кузнецов Ю.Н., Лапина А.В. и др. WHIM-синдром: обзор литературы и описание двух собственных клинических наблюдений в одной семье. Клиническая онкогематология. 2023;16(1):14–26.

DOI: 10.21320/2500-2139-2023-16-1-14-26

РЕФЕРАТ

WHIM-синдром (бородавки, гипогаммаглобулинемия, инфекции и миелокатексис) — редкое генетическое заболевание, связанное с активирующими герминальными мутациями в гене, кодирующем хемокиновый рецептор CXCR4. WHIM-синдром проявляется нейтропенией, лимфопенией, инфекциями и дегенеративными изменениями зрелых нейтрофилов с миелоидной гиперплазией костного мозга (миелокатексисом). У некоторых пациентов выявляются гипогаммаглобулинемия, персистирующие бородавки на коже, в области наружных половых органов, встречаются и другие локализации, а также наблюдаются врожденные пороки сердца. В настоящей работе проведен всесторонний анализ генетических основ, патофизиологии, клинической манифестации, диагностики и возможностей лечения WHIM-синдрома. Приводится описание двух собственных клинических наблюдений в одной семье.

Ключевые слова: WHIM-синдром, CXCR4, бородавки, гипогаммаглобулинемия, инфекции, миелокатексис.

Получено: 30 августа 2022 г.

Принято в печать: 2 декабря 2022 г.

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Статистика Plumx русский

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