A patient with hyper-IgD syndrome responding to anti-TNF treatment

被引：32
作者：
Demirkaya, Erkan [1 ]
Caglar, M. Kazim
Waterham, Hans R.
Topaloglu, Rezan
Ozen, Seza
机构：
[1] Univ Hacettepe, Fac Med, Dept Pediat, Pediat Nephrol & Rheumatol Unit, TR-06100 Ankara, Turkey
[2] Gaziosmanpasa Univ, Fac Med, Dept Pediat, Tokat, Turkey
[3] Univ Amsterdam, Acad Med Ctr, Dept Clin Chem, Lab Genet Metab Dis, NL-1105 AZ Amsterdam, Netherlands
来源：
CLINICAL RHEUMATOLOGY | 2007年 / 26卷 / 10期
关键词：
anti-TNF treatment; coenzyme Q; hyper-IgD syndrome; mevalonate kinase; periodic fever syndrome; simvastatin;
D O I：
10.1007/s10067-006-0501-1
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
The hyperimmunoglobulinemia D periodic fever syndrome (HIDS) is caused by recessive mutations in the mevalonate kinase gene, which encodes an enzyme involved in cholesterol and nonsterol isoprenoid biosynthesis. The pathogenesis and treatment remains unclear. We describe a 6-year-old Turkish girl with severe disease. Her clinical features were accompanied with very high acute-phase reactants including a very high serum amyloid A level. The patient responded well to anti-tumor necrosis factor treatment. Our findings support the use of this anti-cytokine treatment in HIDS.
引用
收藏
页码：1757 / 1759
页数：3
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