Supplementary Material for: Recurrent Urticaria : A Rare Cryopyrin Associated Periodic Syndrome- Muckle Wells Syndrome

Muckle Wells syndrome is a rare Cryopyrin-Associated Periodic Syndrome (CAPS), an auto-inflammatory disorder due to a loss of function mutation in the NACHT domain of the NLRP3 gene. The loss of cryopyrin activity brought on by this deficiency eventually causes dysregulated inflammation and increased release of the proinflammatory cytokine interleukin (IL)-1 beta. It has an autosomal dominant inheritance. The other two variants of CAPS are neonatal-onset multi-system inflammatory disorder (NOMID) and familial cold auto-inflammatory syndrome (FCAS). MWS mainly presents with recurrent fever, recurrent urticarial rash, sensorineural hearing loss, and secondary amyloidosis, which doesn't respond to the anti-histaminic drugs and steroids. However, anti-IL-1 medications like anakinra, rilonacept, and canakinumab have shown to be highly effective in managing MWS. The etiology and phenotypic presentation of MWS are covered in this case study, followed by clinical perspectives on the illness. With the availability of appropriate medications, future complications can be prevented, and the prognosis is improved.穆克尔韦尔斯综合征（Muckle Wells syndrome）是一种罕见的冷吡啉相关周期性综合征（Cryopyrin-Associated Periodic Syndrome，CAPS），属于因NLRP3基因NACHT结构域发生功能丧失突变所引发的自身炎症性疾病。该突变导致冷吡啉活性缺失，最终引发炎症失调，并促使促炎细胞因子白细胞介素-1β（IL-1β）释放增加。本病呈常染色体显性遗传。CAPS另外两种亚型为新生儿起病多系统炎症性疾病（NOMID）与家族性寒冷自身炎症综合征（FCAS）。 穆克尔韦尔斯综合征主要表现为复发性发热、复发性荨麻疹样皮疹、感音神经性听力损失以及继发性淀粉样变性，此类症状对抗组胺药物与糖皮质激素无应答。但阿那白滞素、利洛纳塞、卡那单抗等抗IL-1疗法药物已被证实可高效控制本病病情。 本病例研究涵盖了穆克尔韦尔斯综合征的病因与表型表现，并对该疾病的临床研究视角进行了阐述。随着针对性治疗药物的普及，未来可有效预防并发症发生，改善患者预后。