关键词: 高IgD血症；　关节炎；　治疗；　儿童

Abstract: Objective　To explore the clinical characteristics and treatment of hyper-IgD syndrome (HIDS) developed after arthritis. Method　The clinical data of HIDS and the results of high-throughput sequencing of all exons in a child were retrospectively analyzed. Results　Starting at the age of 5 months, a boy aged 3 years and 2 months suffered from repeated multiple joint swelling and pain, and progressive aggravation in limited movement. One year after the onset, the boy began to have periodic fever, about once every ten days with a temperature peaked at 39-40℃. Leukocyte, C-reactive protein and erythrocyte sedimentation rate were increased during fever, accompanied by anemia, oral ulcer, lymph node enlargement and hepatosplenomegaly. The boy had recurrent eczema, abdominal distension and upper respiratory tract infections after birth and had not any vaccinations. Previous anti-tuberculosis and anti-infection treatments were ineffective. Comprehensive examination excluded infectious and rheumatic diseases and neoplastic hematologic disorders. MVK gene analysis showed two heterozygous missense mutations, exon 10, C.925G>C, P.G309R (rare mutations) and exon 10, c.928G>A, P.V310M. Each parent carried one of the variants, and the boy was diagnosed with HIDS. At present, the child was receiving maintenance treatment of hormone, enacetopril and methotrexate. The fever interval of the child was prolonged with improved joint symptoms, and the follow-up was continued. Conclusion　When a child had periodic fever with infantile onset, accompanied by recurrent joint swelling and pain, lymph node enlargement, the clinicians should be alerted to the possibility of HIDS after excluding infection, rheumatism and blood system diseases. Genetic diagnosis should be performed as soon as possible.

Key words: 　hyper-IgD;　arthritis;　treatment;　child