Abstract: Objective　To explore the clinical characteristics of Behçet's syndrome（BS）in children in a single center of the Children’s Hospital of Chongqing Medical University to improve clinicians' understanding of this disease..Methods　The clinical data of children who met the diagnostic criteria of BS in our hospital from January 2009 to March 2022 were analyzed retrospectively. The clinical manifestations，laboratory examinations and treatment methods were summarized. Results　1.General condition：among the 33 patients，there were 21 males and 12 females（male to female 1.75∶1）. The age of onset ranged from 6 months and 20 days to 16 years and 2 months，with an average age of（6.5±4.1）years. The age of diagnosis ranged from 7 months to 16 years and 4 months，with an average age of（8.9±4.2）years.The course from onset to diagnosis ranged from 10 days to 12 years，with a median course of 1.0（3.4）years. Six cases had a family history of related diseases. 2.The most common first symptom was oral aphthous ulcers，followed by fever and digestive system symptoms. All children had recurrent oral aphthous ulcers（33 cases，100%），digestive system manifestations and genital/perianal ulcers were in 22 cases（66.7%），skin lesions in 13 cases（39.4%），joint involvement in 11 cases（33.3%），eye involvement in 10 cases（30.3%），nervous system manifestations in 9 cases（27.3%） and vascular involvement in 5 cases（15.2%）. 3.Laboratory examinations：8 cases（24.2%）showed an increase in white blood cell count，16 cases（48.5%）had decreased hemoglobin，but there were fewer abnormalities in immunological indexes. 4.One case of TNFAIP3 gene missense mutation in exon 6 c.1804A>T（p.T602S）was found by gene detection，which was diagnosed as Haploinsufficiency of A20（HA20）.5.Comparison of diagnostic criteria：29 cases（87.9%）met ICBD criteria and 21 cases（63.6%）met PEDBD criteria.6.Treatment and prognosis：26 cases（78.8%） were treated with corticosteroids，of which 8 cases were treated with methylprednisolone（1-2 mg/kg bid，3-11days）intravenous drip，and some of them were treated with immunosuppressants（cyclosporine A，methotrexate）; 10 cases were treated with biological agents（infliximab and tocilizumab）. The symptoms and inflammatory indexes were well controlled and the amount of corticosteroids was decreased gradually.Conclusion　Mucosal lesion is the main manifestation of pediatric BS，and the gastrointestinal manifestations and eye symptoms are severe.Children with younger age of onset，family history，and severe symptoms should be alert to Behçet-like primary immunodeficiency diseases.Biological agents have been initially used in the treatment of BS in children，but large sample studies are still needed to evaluate their safety and efficacy.

Key words: Beh?et's syndrome, child, Haploinsufficiency of A20

摘要： 目的　探讨重庆医科大学附属儿童医院儿童白塞综合征（BS）临床特征，以提高临床医师对该病的认识。方法　回顾性分析2009年1月至2022年3 月重庆医科大学附属儿童医院风湿免疫科住院的33例BS患儿资料，总结临床表现、实验室检查及治疗方式等。结果　33例中男21例、女12例，男女比例1.75∶1。起病年龄6月龄20 d至16岁2月龄，平均年龄（6.5±4.1）岁。确诊年龄7月龄至16岁4月龄，平均确诊年龄（8.9±4.2）岁。发病至确诊10 d至12年不等，中位时间1.0（3.4）年。具有相关疾病家族史6例。首发症状最常见为口腔溃疡，其次为发热、消化系统症状。所有患儿均存在复发性口腔溃疡（33例，100%），消化系统表现、生殖器/肛周溃疡22例（66.7%），皮肤损害13例（39.4%）、关节症状11例（33.3%），眼部并发症10例（30.3%），神经系统表现9例（27.3%），血管受累5例（15.2%）。有8例（24.2%）出现白细胞数升高，16例（48.5%）血红蛋白降低，免疫学指标异常较少。1例TNFAIP3基因在6号染色体第7外显子c.1804A>T（p.T602S）错义突变（母源），诊断为A20单倍剂量不足（HA20）。符合白塞病国际评分标准（ICBD）29例（87.9%），符合儿童白塞病标准（PEDBD）21例（63.6%）。26例（78.8%）加用泼尼松治疗，其中8例使用甲泼尼龙（1～2 mg/kg，日2次，3～11 d）静脉滴注，部分合并免疫抑制剂（环孢素、甲氨蝶呤等）治疗；10例联合使用生物制剂（英夫利西单抗、托珠单抗）治疗，症状及炎症指标均得到较好控制，激素逐渐减量。结论　BS患儿以黏膜损害为主要表现，胃肠道及眼部受累明显。起病年龄较小，有家族史，症状较重患儿需警惕类BS样表现的原发性免疫缺陷病。生物制剂在儿童BS治疗中已有初步应用，仍需较大样本量的研究评估其安全性及有效性。

关键词: 白塞综合征, 儿童, A20单倍体剂量不足