Tran Tu-Anh
Department of Pediatrics, Nîmes University Hospital, INSERM U1183, Montpellier-Nîmes University, Nîmes, France.
Open Access Rheumatol. 2017 Jul 11;9:123-129. doi: 10.2147/OARRR.S114447. eCollection 2017.
Muckle-Wells syndrome (MWS) is a rare autoinflammatory disorder. It is due to gene mutations, responsible for excessive caspase-1 activation and interleukin 1β processing. MWS is the intermediate phenotype of severity of cryopyrin-associated periodic syndrome. Urticarial rash, conjunctivitis, recurrent fever, arthralgia, and fatigue are the main clinical manifestations of MWS. Yet, sensorineural hearing loss and renal amyloidosis can occur after long term evolution. Patients' quality of life has been drastically improved with the advent of IL-1 inhibitors. This review reports recent findings in MWS, particularly genotype/phenotype correlation, and discusses the clinical perspectives of this disease in a time of efficient treatment.
穆克-韦尔斯综合征（MWS）是一种罕见的自身炎症性疾病。它是由基因突变引起的，这些基因突变导致半胱天冬酶-1过度激活和白细胞介素1β加工异常。MWS是冷吡啉相关周期性综合征严重程度的中间表型。荨麻疹样皮疹、结膜炎、反复发热、关节痛和疲劳是MWS的主要临床表现。然而，长期病情发展后可能会出现感音神经性听力损失和肾淀粉样变性。随着白细胞介素-1抑制剂的出现，患者的生活质量得到了显著改善。本综述报告了MWS的最新研究结果，特别是基因型/表型相关性，并讨论了在有效治疗时代该病的临床前景。
