Appels C W Y, Kloppenburg M
Afd. Interne Geneeskunde, Leids Universitair Medisch Centrum, 2300 RC Leiden.
Ned Tijdschr Geneeskd. 2006 Jul 22;150(29):1628-31.
A 41-year-old patient was referred to our rheumatology ward due to a long history of urticaria, joint pain and fever. These symptoms appeared during the evening and then resolved during the night. Extensive testing in the past failed to provide a diagnosis and treatment with high-dose corticosteroids, methotrexate and colchicine was ineffective. Based on clinical criteria, including bilateral sensorineural hearing loss, we diagnosed Muckle-Wells syndrome, a rare auto-inflammatory disease considered one of the hereditary periodic fever syndromes and caused by a mutation in the CIAS1 gene. There was a remarkable response to anakinra, an interleukin-1 receptor antagonist. The favourable results suggest that interleukin-1 plays an important role in the development of this syndrome.
一名41岁患者因长期患有荨麻疹、关节疼痛和发热被转诊至我们的风湿病科病房。这些症状在傍晚出现，随后在夜间消退。过去进行的广泛检查未能明确诊断，使用大剂量皮质类固醇、甲氨蝶呤和秋水仙碱治疗均无效。基于包括双侧感音神经性听力损失在内的临床标准，我们诊断为穆克-韦尔斯综合征，这是一种罕见的自身炎症性疾病，被认为是遗传性周期性发热综合征之一，由CIAS1基因突变引起。使用白细胞介素-1受体拮抗剂阿那白滞素后有显著反应。这些良好结果表明白细胞介素-1在该综合征的发病过程中起重要作用。
