Kirresh Ali, Everitt Alex, Kon Onn Min, DasGupta Ranan, Pickering Matthew C, Lachmann Helen J
Department of Neurology, Imperial College Healthcare NHS Trust, St Mary's Hospital, London, UK.
Department of Respiratory Medicine, Imperial College Healthcare NHS Trust, St Mary's Hospital, London, UK.
Pract Neurol. 2016 Aug;16(4):304-7. doi: 10.1136/practneurol-2015-001342. Epub 2016 Mar 10.
Tumour necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant condition caused by mutations in the TNFRSF1A gene. It is characterised by recurrent episodes of myalgia, followed by prolonged fever, migratory rashes, headache, serositis, arthralgia, abdominal pain and periorbital oedema. We describe a 49-year-old man with a self-limiting episode of paraparesis who reported recurrent bouts of abdominal symptoms and headaches since childhood. He had a persistent inflammatory response with night sweats and weight loss. We diagnosed TRAPS 2 years after having identified a TNFRSF1A gene mutation. His symptoms and inflammatory response resolved dramatically with the interleukin-1 receptor antagonist anakinra.
肿瘤坏死因子受体相关周期性综合征（TRAPS）是一种常染色体显性疾病，由TNFRSF1A基因突变引起。其特征为反复发作的肌痛，随后是持续发热、游走性皮疹、头痛、浆膜炎、关节痛、腹痛和眶周水肿。我们描述了一名49岁男性，他有一次自限性的截瘫发作，自述自幼反复出现腹部症状和头痛。他有持续的炎症反应，伴有盗汗和体重减轻。在发现TNFRSF1A基因突变两年后，我们诊断他患有TRAPS。使用白细胞介素-1受体拮抗剂阿那白滞素后，他的症状和炎症反应显著缓解。
