Clinical features of autoinflammatory diseases in 3 patients
10.3760/cma.j.issn.1671-7368.2014.10.013
- VernacularTitle:自身炎症性疾病三例报告并文献复习
- Author:
Yulin GONG
;
Min SHEN
- Publication Type:Journal Article
- Keywords:
Autoinflammatory diseases;
Syndrome
- From:
Chinese Journal of General Practitioners
2014;13(10):832-834
- CountryChina
- Language:Chinese
-
Abstract:
Patient one was a 19-year-old woman of periodic fever with urticaria during the first week of life.And there were typicalfacies,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.
