Синдром дефицита мевалонаткиназы: опыт одного центра

Целью данного исследования явилось проведение анализа клинических, лабораторных и молекулярно-генетических данных 26 пациентов (15 мальчиков, 11 девочек) с диагнозом синдром дефицита мевалонаткиназы (MKD, mevalonate kinase deficiency).

Материал и методы. Медиана возраста манифестации MKD составляла 1,5 мес. Клинические проявления и тяжесть течения заболевания были крайне разнообразны: от изменений, напоминавших синдром Маршалла, до тяжелых системных нарушений с дыхательной недостаточностью, гепатоспленомегалией и панцитопенией.

Результаты. Во всех случаях у пациентов выявлены гомозиготные/компаунд-гетерозиготные мутации гена MVK, включая 10 впервые описанных вариантов. У всех 20 пациентов, получавших терапию ингибитором ИЛ-1 в течение периода, достаточного для оценки эффективности, можно констатировать стабилизацию состояния, но только у 17 из них – полную лекарственную ремиссию. 

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