PDF(Pubmed)
Abstract：
Muckle-Wells syndrome (MWS) is a genetic periodic fever syndrome characterised by urticaria, fever and malaise starting in childhood with the development of perceptive hearing loss and risk of amyloidosis later in life.Patient A, in his 60s, was referred to a nephrologist because of glomerular haematuria and elevated erythrocyte sedimentation rate. He appeared to have periodic fevers since childhood, skin changes in cold circumstances and progressive deafness since he was 30 years of age. Genetic analysis revealed a pathogenic variant in the NLRP3 gene compatible with MWS. Treatment with anakinra (interleukin 1 antagonist) improved his symptoms, but only mild episodic arthralgia remained. Glomerular erythrocyturia diminished during treatment, supposing a relation between MWS and haematuria.This case report shows that rare genetic fever syndromes starting from early childhood can still be diagnosed in adult patients, with important therapeutic consequences. Symptoms can be relieved and amyloidosis with potential renal failure may be prevented.
摘要：
Muckle-Wells综合征（MWS）是一种以荨麻疹为特征的遗传性周期性发热综合征，发烧和不适始于童年时期，并在以后的生活中出现感知性听力损失和淀粉样变性的风险。病人A,在他60多岁的时候,由于肾小球血尿和红细胞沉降率升高，被转介给肾脏科医师。他似乎从小就有周期性的发烧，自从他30岁以来，在寒冷的情况下皮肤变化和进行性耳聋。遗传分析显示，NLRP3基因中存在与MWS兼容的致病性变异。用anakinra（白介素1拮抗剂）治疗改善了他的症状，但只剩下轻微的阵发性关节痛。治疗期间肾小球红细胞增多减少，假设MWS与血尿之间存在关系。此病例报告显示，从儿童早期开始的罕见遗传性发热综合征仍可在成年患者中诊断，具有重要的治疗效果。可以缓解症状，并可以预防淀粉样变性伴潜在的肾衰竭。
