自身炎症性疾病三例报告并文献复习

Clinical features of autoinflammatory diseases in 3 patients

报告3例自身炎症性疾病.1例为19岁女性,出生后即出现周期性发热伴荨麻疹,特征性容貌,伴寡关节炎及中枢神经系统受累,发作期急性反应物质显著升高,诊断为慢性婴儿神经皮肤关节综合征,短期应用肿瘤坏死因子α受体拮抗剂有效.另2例均为男性,幼年发病,发作期急性反应物质显著升高.1例周期性发热伴荨麻疹样皮疹、关节痛、头痛,结合NLRP3基因突变,确诊为Muckle-Wells综合征.1例反复荨麻疹伴结膜炎、寡关节炎、肝脾大、IgD升高,临床诊断为甲羟戊酸激酶缺乏症.诊断自身炎症性疾病需结合临床表现和基因检测,生物制剂尤其是IL-1拮抗剂在该病应用前景广泛.

Patient one was a 19-year-old woman of periodic fever with urticaria during the first week of life.And there were typical ＂ facies＂,oligoarthritis and central nervous system involvement.She also exhibited a persistent elevation of acute phase reactants.The diagnosis of chronic infantile neurological cutaneous and articular syndrome was made.Short-term dosing of tumor necrosis factor-α receptor antagonist was administrated and was substituted by glucocorticoid and methotrexate.Another two males had an earlyonset of increased acute phase reactants during inflammation attacks.One of them had recurrent fever with urticaria-like rash,arthralgia and headache.Muckle-Wells syndrome was diagnosed on basis of NLRP3 gene mutation （c.92A 〉 T）.And another had recurrent urticaria-like rash with conjunctivitis,oligoarthritis,hepatosplenomegaly and increased serum IgD.The clinical diagnosis was mevalonate-kinase deficiency.Autoinflammatory diseases should be suspected by physicians and diagnosed with a combination of phenotype and genotype.Biological agents,especially interleukin-1 antagonist,have broad prospects in the therapy of autoinflammatory diseases.