Ross J Barrie, Finlayson Laura A, Klotz P Jennifer, Langley Richard G, Gaudet Roxanne, Thompson Kara, Churchman Sarah M, McDermott Michael F, Hawkins Philip N
Division of Dermatology and Department of Medicine, Dalhousie University, Halifax, NS, Canada.
J Cutan Med Surg. 2008 Jan-Feb;12(1):8-16. doi: 10.2310/7750.2008.07050.
The susceptibility gene for familial cold autoinflammatory syndrome (FCAS) has been mapped to chromosome 1q44 and a point mutation determined to be present in all affected members of a large Canadian kindred. Anakinra (Kineret) is known to block IL-1 receptor and in the few patients with FCAS in whom it has been used, it has been shown to provide relief for this lifelong disability.
To demonstrate the efficacy and safety of anakinra (Kineret) in FCAS.
Eight affected family members aged 29 to 77 years received anakinra 100 mg subcutaneously daily for 4 weeks preceded and followed by a 2-week control period.
The treatment was rapidly effective paralleled by the immediate fall of the C-reactive protein and serum amyloid A protein. The only significant side effect was an injection-site reaction in 50%, which declined in the follow-up period. The effect was sustained in all who continued to use the treatment at 4 and 16 months of follow-up.
This is the first treatment of FCAS that is completely effective while it is used.
家族性寒冷性自身炎症综合征（FCAS）的易感基因已被定位到1号染色体长臂44区，并且在一个加拿大大家族的所有患病成员中确定存在一个点突变。已知阿那白滞素（凯纷）可阻断白细胞介素-1受体，在少数使用过该药物的FCAS患者中，已证明它可为这种终身残疾提供缓解。
证明阿那白滞素（凯纷）治疗FCAS的有效性和安全性。
8名年龄在29至77岁之间的患病家庭成员，每天皮下注射100mg阿那白滞素，持续4周，前后各有一个2周的对照期。
治疗迅速起效，同时C反应蛋白和血清淀粉样蛋白A水平立即下降。唯一显著的副作用是50%的患者出现注射部位反应，在随访期间有所减轻。在随访的4个月和16个月时，所有继续使用该治疗的患者疗效持续。
这是FCAS的第一种在使用时完全有效的治疗方法。
