Abstract：
Hyperimmunoglobulin D syndrome (HIDS) is a rare autoinflammatory disorder with autosomal recessive inheritance. It is caused by specific mutations in the mevalonate kinase gene (MVK). No treatment specific to HIDS has been approved to date; however, nonsteroidal anti-inflammatory drugs, steroids, colchicine, tumor necrosis factor-α inhibitors, and anti-interleukin-1 treatments are used, based on case reports and observational studies. Herein, we report a case with recurrent fever and arthritis attacks who did not respond to anakinra and was successfully treated with canakinumab. Long-term remission was achieved without any side effects with 300 mg canakinumab treatment every 4 weeks for 5 years.
摘要：
高免疫球蛋白D综合征（HIDS）是一种罕见的常染色体隐性遗传的自身炎症性疾病。它是由甲羟戊酸激酶基因（MVK）中的特定突变引起的。迄今为止，尚未批准针对HIDS的特定治疗方法；然而，非甾体抗炎药，类固醇,秋水仙碱,肿瘤坏死因子-α抑制剂，使用抗白细胞介素-1治疗，基于病例报告和观察性研究。在这里，我们报告了一例反复发热和关节炎发作的病例,该病例对anakinra无反应,并成功接受了canakinumab治疗.每4周使用300mgcanakinumab治疗5年，可实现长期缓解，无任何副作用。
