Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra

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• 作者：Skaiste Peciuliene ; Birute Burnyte ; Rymanta Gudaitiene…
• 关键词：Mevalonate kinase deficiency ; Mevalonic aciduria ; Hyperimmunoglobulinemia D syndrome ; Autoinflammatory syndrome ; IL ; 1 antagonist
• 刊名：Pediatric Rheumatology
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：14
• 期：1
• 全文大小：522 KB
• 刊物主题：Pediatrics; Rheumatology;
• 出版者：BioMed Central
• ISSN：1546-0096

文摘

Background Mevalonate kinase deficiency is a metabolic autoinflammatory syndrome caused by mutations in the MVK gene, mevalonate kinase, the key enzyme in the non-sterol isoprenoid biosynthesis pathway. Two phenotypes of mevalonate kinase deficiency are known based on the level of enzymatic deficiency, mevalonic aciduria and hyperimmunoglobulinemia D syndrome, but a wide spectrum of intermediate phenotypes has been reported. Currently one of the most effective treatments is biological therapy (with interleukin-1 antagonist anakinra or tumour necrosis factor-α inhibitor etanercept).