Вопросы современной педиатрии (Mar 2012)
PERIODIC FEVER SYNDROME (MEVALONATE KINASE DEFICIENCY, HYPERIMMUNOGLOBULINEMIA D SYNDROME) IN CHILDREN
Abstract
Periodic fever syndrome with mevalonate kinase deficiency, also known as hyperimmunoglobulinemia D syndrome, is characterized by early onset and relatively benign course. The article contains a history case of periodic fever syndrome with mevalonate kinase deficiency in a 2-years-9-months old girl. The challenges of differential diagnostics of this disease are accentuated in the article.
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