PDF(Pubmed)
Abstract：
Muckle-Wells syndrome (MWS) is an autosomal dominant autoinflammatory disease recognized as the intermediate phenotype of cryopyrin-associated periodic syndrome (CAPS) caused by NLRP3 gene mutation. It often takes a long time before the diagnosis is made because the clinical presentation of MWS is variable. We report a pediatric case who had had persistently elevated serum C-reactive protein (CRP) level since infancy and was diagnosed with MWS by the development of sensorineural hearing loss in school age. The patient had no periodic symptoms of MWS until the development of sensorineural hearing loss. It is important to differentiate MWS in patients with persistent serum CRP elevation, even if no periodic symptoms, including fever, arthralgia, myalgia and rash, are observed. Furthermore, in this patient, lipopolysaccharide (LPS)-induced monocytic cell death occurred, but to a lesser degree than has been reported in patients with chronic infantile neurological cutaneous, and articular syndrome (CINCA). Because CINCA and MWS are phenotypic variants on the same clinical spectrum, this suggests that a further large-scale study is desired to investigate the association between degree of monocytic cell death and disease severity in CAPS patients.
摘要：
Muckle-Wells综合征（MWS）是一种常染色体显性遗传的自身炎症性疾病，被认为是由NLRP3基因突变引起的冷冻比林相关周期性综合征（CAPS）的中间表型。通常需要很长时间才能做出诊断，因为MWS的临床表现是可变的。我们报告了一例儿科病例，该病例自婴儿期以来血清C反应蛋白（CRP）水平持续升高，并因学龄期的感觉神经性听力损失而被诊断为MWS。患者在感觉神经性听力损失发展之前没有MWS的周期性症状。区分MWS在血清CRP持续升高患者中具有重要意义，即使没有周期性症状，包括发烧,关节痛,肌痛和皮疹，被观察到。此外，在这个病人身上，脂多糖（LPS）诱导的单核细胞死亡发生，但程度低于慢性婴儿神经皮肤患者的报道，关节综合征（CINCA）。因为NCA和MWS是相同临床谱上的表型变异，这表明需要进一步的大规模研究来研究CAPS患者中单核细胞死亡程度与疾病严重程度之间的关系.
