Abstract
The aimof this study was to analyze the clinical, laboratory and molecular genetic data of 26 patients (15 boys, 11 girls) diagnosed with mevalonate kinase deficiency syndrome (MKD).Subjects and methods. The age of MKD manifestation ranged from 0 to 30.0 months (M – 1.5 months). Clinical manifestations and their severity were extremely diverse: from symptoms resembling Marshall’s syndrome to severe systemic manifestations with respiratory failure, hepatosplenomegaly and pancytopenia.Results/Conclusion. All patients had homozygous/compound-heterozygous mutations in theMVKgene, including 10 newly described variants. In all 20 patients, who have been treated with IL-1 inhibitors long enough to assess the effect of the treatment, drastic improvement of the condition was noted, but only in 17/20 patients achieved full remission.
Highlights
The aim of this study was to analyze the clinical, laboratory and molecular genetic data of 26 patients (15 boys, 11 girls) diagnosed with mevalonate kinase deficiency syndrome (MKD)
In all 20 patients, who have been treated with IL-1 inhibitors long enough to assess the effect of the treatment, drastic improvement of the condition was noted, but only in 17/20 patients achieved full remission
У 23 пациентов во время приступа отмечалась выраженная боль в животе, у 20 – неоформленный и учащенный стул вплоть до диареи, 1 пациента, напротив, с рождения беспокоили запоры длительностью до 7 дней
Summary
Ключевые слова: аутовоспалительный синдром, гипер-IgD-синдром, мевалонаткиназа, мевалоновая ацидурия, MVK, периодические синдромы, дети Для цитирования: Козлова АЛ, Блудова ВО, Бурлаков ВИ, Райкина ЕВ, Варламова ТВ, Курникова МА, Ремизов АН, Терещенко ГВ, Моисеева АА, Дибирова СА, Хорева АЛ, Роппельт АА, Родина ЮА, Кузьменко НБ, Мухина АА, Калашникова ЕИ, Игишева ЛН, Мартынова НВ, Жогова ОВ, Зимин СБ, Барабанова ОВ, Котова ЮВ, Новичкова ГА, Щербина АЮ. В статье представлены клинические, лабораторные и молекулярно-генетические характеристики пациентов с MKD, а также оценка эффективности и безопасности проводимой им терапии
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