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。