PERIODIC FEVER SYNDROME (MEVALONATE KINASE DEFICIENCY, HYPERIMMUNOGLOBULINEMIA D SYNDROME) IN CHILDREN
Author(s) -
Yu. S. Patrusheva,
M. D. Bakradze
Publication year - 2012
Publication title -
вопросы современной педиатрии
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.12
H-Index - 5
eISSN - 1682-5535
pISSN - 1682-5527
DOI - 10.15690/vsp.v11i2.227
Subject(s) - medicine , down syndrome , differential diagnosis , disease , pathology , psychiatry
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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