Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition
Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition
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DOI：
10.1056/nejmoa055137
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发表时间：
2006-08-10
影响因子：
158.5
通讯作者：
Kastner, Daniel L.
中科院分区：
文献类型：
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作者：
Goldbach-Mansky, Raphaela;Dailey, Natalie J.;Kastner, Daniel L.
背景：新生儿多系统炎性疾病以发热、荨麻疹、无菌性脑膜炎、变形性关节病、听力损失和智力低下为特征。许多患者有突变的冷诱导的自身炎症综合征1（CIAS 1）基因，编码cryopyrin，一种蛋白质，调节inflammation.METHODS：我们选择了18例患者的腹部发病的多系统炎症性疾病（12个可识别的CIAS 1突变）接受阿那白滞素，白细胞介素-1受体拮抗剂（1至2毫克每公斤体重每天皮下注射）。在11名患者中，阿那白滞素在3个月时停药，直到发生发作。主要终点包括每日症状日记评分的变化，血清淀粉样蛋白A和C-反应蛋白水平，以及从基线到3个月和从3个月到疾病flake.RESULTS的红细胞沉降率：所有18例患者对阿那白滞素有快速反应，皮疹消失。日记评分改善（P
BACKGROUND:Neonatal-onset multisystem inflammatory disease is characterized by fever, urticarial rash, aseptic meningitis, deforming arthropathy, hearing loss, and mental retardation. Many patients have mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene, encoding cryopyrin, a protein that regulates inflammation.METHODS:We selected 18 patients with neonatal-onset multisystem inflammatory disease (12 with identifiable CIAS1 mutations) to receive anakinra, an interleukin-1-receptor antagonist (1 to 2 mg per kilogram of body weight per day subcutaneously). In 11 patients, anakinra was withdrawn at three months until a flare occurred. The primary end points included changes in scores in a daily diary of symptoms, serum levels of amyloid A and C-reactive protein, and the erythrocyte sedimentation rate from baseline to month 3 and from month 3 until a disease flare.RESULTS:All 18 patients had a rapid response to anakinra, with disappearance of rash. Diary scores improved (P