全身型幼年特发性关节炎
Systemic-onset juvenile idiopathic arthritis
定义 英文原文（暂无中文）
A rare pediatric rheumatological disease characterized by the variable occurrence of chronic arthritis, intermittent high spiking fever, maculopapular rash during fever episodes, hepatomegaly and/or splenomegaly, lymphadenopathy, and serositis.
别名
系统性多关节炎
基本事实
- 遗传方式
- 多基因/多因素、未知
- 发病年龄
- 儿童期
- 患病率
- 1-9 / 100 000
相关基因 4
| 基因 | 名称 | 关联类型 |
|---|---|---|
| HLA-DRB1 | major histocompatibility complex, class II, DR beta 1 | Major susceptibility factor in |
| MIF | macrophage migration inhibitory factor | Major susceptibility factor in |
| IL6 | interleukin 6 | Major susceptibility factor in |
| LACC1 | laccase domain containing 1 | Disease-causing germline mutation(s) in |
临床表型 22
极常见 99–80%9
- 关节疼痛 HP:0002829
- 关节炎 HP:0001369
- 自身免疫 HP:0002960
- C-反应蛋白水平升高 HP:0011227
- 红细胞沉降速度升高 HP:0003565
- 发热 HP:0001945
- 关节肿胀 HP:0001386
- 幼年类风湿关节炎 HP:0005681
- 皮疹 HP:0000988
常见 79–30%1
- 淋巴结肿大 HP:0002716
偶见 29–5%12
- 腹痛 HP:0002027
- 前葡萄膜炎 HP:0012122
- 肺动脉压升高 HP:0004890
- 肾小球肾炎 HP:0000099
- 生长延迟 HP:0001510
- 肝脏肿大 HP:0002240
- 血清铁蛋白升高 HP:0003281
- 非感染性脑膜炎 HP:0033430
- 骨质减少 HP:0000938
- 心包炎 HP:0001701
- 胸腔积液 HP:0002202
- 脾肿大 HP:0001744
近两年的全球研究 75L2
2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。
- 2026-07病例报告Interstitial lung disease associated with systemic-onset juvenile idiopathic arthritis
- 2026-06Diagnostic value of basic and extended procedures in pediatric fever of unknown origin - results of a nation-wide surveillance study
- 2026-06开放获取Serum procalcitonin as a predictor of severity of pneumonia in under-five children: A prospective observational study
- 2026-06开放获取Notes from the Field: Case of Legionnaires Disease Associated with a Home Device Used to Mix Powdered Infant Formula - United States, 2025
- 2026-06病例报告Long-term survival with tocilizumab treatment for tislelizumab-related pneumonitis in a patient with non-small cell lung cancer: A case report
- 2026-05开放获取Relationship Between Clinical Manifestations of Acute Rheumatic Fever and Mutations in the FMF-Associated MEFV Gene Among Turkish Children
- 2026-05开放获取Rare 19q13.42 duplication encompassing <i>PRKCG</i> associated with neurodevelopmental abnormalities
- 2026-04Five-Year Outcomes of Systemic-Onset Juvenile Idiopathic Arthritis in India: Insights into Disease Course and Predictive Factors
- 2026-04综述开放获取The Role of Neutrophil, Monocyte and Macrophage Calprotectin and S100A12 in the Fibrotic Process
- 2026-04开放获取Effectiveness of Canakinumab for First-Line Steroid-Free Treatment in Systemic-Onset Juvenile Idiopathic Arthritis and Juvenile Still Disease
- 2026-03综述开放获取Osteoarthritis: molecular pathogenesis and potential therapeutic options
- 2026-03开放获取Proceedings of the 2<sup>nd</sup> Symposium "Autoimmune Diseases -Clinical Unmet Needs in Systemic Autoimmune Diseases Guide Clinical, Translational, and Basic Research"
- 2026-03随机对照试验开放获取Thorough QT Study on the Effect of Therapeutic and Supratherapeutic Dosing of Givinostat in Healthy Volunteers
- 2026-02病例报告开放获取An abnormal immune response masquerading as infectious conditions
- 2026-02综述开放获取γδ T Cells in Autoinflammatory Diseases
- 2026-02系统综述Clinical Features and Outcome Measures Across Still Disease (Systemic Juvenile Idiopathic Arthritis and Adult-Onset Still Disease) Cohorts Worldwide: A Systematic Literature Review
- 2026-01开放获取Proceedings: National multidisciplinary conference on recent advances in medical specialities
- 2025-12开放获取Rescue Therapy With Continuous Intravenous Anakinra Infusion and Plasma Exchange in Refractory Cytokine Storm of Systemic JIA: A Case Report
- 2025-12开放获取Adult-Onset Still's Disease Complicated by Secondary Hemophagocytic Lymphohistiocytosis: A Case Report
- 2025-12Canakinumab for systemic-onset juvenile idiopathic arthritis/Still's disease-effectiveness and safety data from the BiKeR registry
国家医保药品目录中点名本病的药品 1L2
出自《国家基本医疗保险、生育保险和工伤保险药品目录（2025年）》（医保发〔2025〕33号，2026-01-01 起执行）。下列药品在药品名称或限定支付范围里出现了本病的名称。
匹配不到 ≠ 不能报销。目录里只有约一成药品设了限定支付范围，其余按适应症正常使用同样可报销；本区块只能回答「目录有没有点名这个病」，不能回答「这个病有没有药能报销」。各省执行细则、双通道与单独支付范围另有规定，请以当地医保部门口径为准。
- 托珠单抗 注射剂乙类西药限：1.全身型幼年特发性关节炎的二线治疗；2.限诊断明确的类风湿关节炎经传统DMARDs治疗3-6个月疾病活动度下降低于50%者。
境外已获批用于本病的药物 13L2
欧盟 5 项、美国 8 项。同一药物在两地各批一次的，会分别列出。
「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。
药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。
- Enbrel欧盟2000-02-02etanercept该药获批用于青少年特发性关节炎，本病属于其中官方记录
- Orencia欧盟2007-05-21abatacept该药获批用于青少年特发性关节炎，本病属于其中官方记录
- Ilaris欧盟2009-10-23canakinumab该药获批用于青少年特发性关节炎，本病属于其中官方记录
- Nordimet欧盟2016-08-18methotrexate该药获批用于青少年特发性关节炎，本病属于其中官方记录
- Hulio欧盟2018-09-17adalimumab该药获批用于青少年特发性关节炎，本病属于其中官方记录
- Enbrel美国1999-05-27etanercept该药获批用于青少年特发性关节炎，本病属于其中官方记录
- Mobic美国2005-08-11meloxicam该药获批用于青少年特发性关节炎，本病属于其中官方记录
- Humira美国2008-02-21adalimumab该药获批用于青少年特发性关节炎，本病属于其中官方记录
- Actemra美国2013-04-29tocilizumab该药获批用于青少年特发性关节炎，本病属于其中官方记录
- ILARIS美国2013-05-09canakinumab该药获批用于青少年特发性关节炎，本病属于其中官方记录
- Xatmep美国2017-04-25methotrexate oral solution该药获批用于青少年特发性关节炎，本病属于其中官方记录
- SIMPONI ARIA®美国2020-09-29golimumab该药获批用于青少年特发性关节炎，本病属于其中官方记录
- Rinvoq美国2024-04-26upadacitinib该药获批用于青少年特发性关节炎，本病属于其中官方记录
已获孤儿药资格、尚未获批的在研药物（12 项）
孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，不代表这个药已被证明有效，也不代表将来一定能上市。绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。
- Interleukin-1 receptor antagonist, human recombinant美国1991-09-23该药获批用于青少年特发性关节炎，本病属于其中Treatment of juvenile rheumatoid arthritis.官方记录
- Gammalinolenic acid美国1994-07-27该药获批用于青少年特发性关节炎，本病属于其中Treatment of juvenile rheumatoid arthritis.官方记录
- Purified type II collagen美国1995-02-09该药获批用于青少年特发性关节炎，本病属于其中Treatment of juvenile rheumatoid arthritis.官方记录
- human gammaglobulin美国2001-05-25该药获批用于青少年特发性关节炎，本病属于其中Treatment for juvenile rheumatoid arthritis官方记录
- rofecoxib美国2004-03-16该药获批用于青少年特发性关节炎，本病属于其中Treatment of juvenile rheumatoid arthritis官方记录
- Interleukin-1 Trap美国2005-04-04该药获批用于青少年特发性关节炎，本病属于其中Treatment of Still's disease including juvenile rheumatoid arthritis and adult-onset Still's disease官方记录
- nabumetone美国2008-05-05该药获批用于青少年特发性关节炎，本病属于其中Treatment of pediatric juvenile rheumatoid arthritis官方记录
- Kre-Celazine美国2013-04-01该药获批用于青少年特发性关节炎，本病属于其中Treatment of juvenile rheumatoid arthritis joint and related tissue inflammation in the pediatric population官方记录
- Celecoxib oral liquid suspension美国2017-01-05该药获批用于青少年特发性关节炎，本病属于其中Treatment of pediatric juvenile idiopathic arthritis官方记录
- protoplasmic protein matrix, omega-3 fatty oils, vitamins, minerals an美国2017-01-11该药获批用于青少年特发性关节炎，本病属于其中Treatment of juvenile rheumatoid arthritis.官方记录
- tadekinig alfa美国2017-07-03Treatment of Still's disease, including adult-onset Still's disease (AoSD) and systemic juvenile idiopathic arthritis (sJIA)官方记录
- upadacitinib美国2017-08-16Treatment of pediatric systemic juvenile idiopathic arthritis官方记录
数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。
在中国开展的临床试验 13L2
按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。
登记为可入组 6
- 招募中NCT03773965A Study of Baricitinib in Participants From 1 Year to Less Than 18 Years Old With Juvenile Idiopathic Arthritis中国研究中心 4 个：Beijing、Chongqing、Nanjing、Suzhou
- 招募中NCT05200715AutoInflammatory Disease Alliance Registry (AIDA)中国研究中心 2 个：Beijing、Chongqing
- 招募中NCT06417502Observational Study of Pediatric Rheumatic and Immunologic Diseases in China: The CAPRID Registry中国研究中心 9 个：Beijing、Changsha、Chongqing、Hangzhou、Nanjing、Shenzhen
- 招募中NCT05609630Study of Oral Upadacitinib and Subcutaneous/Intravenous Tocilizumab to Evaluate Change in Disease Activity, Adverse Events and How Drug Moves Through the Body of Pediatric and Adolescent Participants With Active Systemic Juvenile Idiopathic Arthritis.中国研究中心 5 个：Chongqing、Hangzhou、Shanghai、Suzhou、Xi'an
- 招募中NCT05925452To Evaluate the Efficacy and Safety of Genalumab for Injection in the Treatment of Active Systemic Juvenile Idiopathic Arthritis.中国研究中心 10 个：Beijing、Changsha、Chengdu、Chongqing、Hangzhou、Nanjing 等 10 地
- 招募中NCT07184450Clinical Study of BCMA/CD70-targeted CAR-T Therapy for Refractory Pediatric Rheumatic Diseases中国研究中心 1 个：Hangzhou
其他状态的试验（7 项）
- 已完成NCT03301883A Study of Tocilizumab in Chinese Participants With Systemic Juvenile Idiopathic Arthritis (sJIA)中国研究中心 10 个：Beijing、Changchun、Chongqing、Guangzhou、Hangzhou、Nanjing 等 8 地
- 已完成NCT03000439A Safety, Efficacy And Pharmacokinetics Study Of Tofacitinib In Pediatric Patients With sJIA中国研究中心 9 个：Beijing、Changsha、Chengdu、Chongqing、Guangzhou、Hangzhou 等 9 地
- 状态未知NCT03651193Multi-center Registration Study of Adult Onset Still's Disease in Chinese Population中国研究中心 1 个：Hunan
- 已完成NCT04397107The Therapeutic Value and Mechanism of Recombinant Human Interleukin-2 on Children With Rheumatic Diseases中国研究中心 1 个：Changchun
- 状态未知NCT05027373Safety, Tolerability and Pharmacokinetic of Recombinant Anti-IL-1β Humanized Monoclonal Antibody Injection中国研究中心 1 个：Shanghai
- 已完成NCT05001737Evaluate Efficacy, Safety and Tolerability, PK and PD of Emapalumab in Children and Adults With MAS in Still's or SLE中国研究中心 3 个：Beijing、Shanghai
- 状态未知NCT05239702Clinical Study of Targeting CD7 CAR-T Cells in the Treatment of Autoimmune Diseases中国研究中心 1 个：Hangzhou
中国境外的在招试验 25L2
这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。
美国6法国5意大利3Russia2加拿大2德国2西班牙2巴西1瑞士1丹麦1荷兰1土耳其1韩国1阿根廷1另有 6 个国家/地区
CT.gov 报告命中 25 项，此处取回并展示最近的 15 项。
- 尚未开始招募NCT06718049Role of Interleukin 18 (IL-18) and Interleukin 18 Binding Protein (IL-18BP) in the Diagnostic Work-up of Systemic Juvenile Idiopathic Arthritis and Autoinflammatory Diseases: Possible Biomarkers in the Differential Diagnosis of Other Febrile Diseases意大利
- 尚未开始招募NCT07737470Inflammatory Disease Biobank for Immunophenotyping and Cardiovascular Research
- 尚未开始招募NCT07625384Study of the Efficacy and Safety of Goflikicept and Olokizumab as the Second-line Therapy in Patients With Still's DiseaseRussia
- 招募中NCT07087912Safety and Immunogenicity of the Live Attenuated Tetravalent Butantan-Dengue Vaccine in Autoimmune Rheumatic Diseases巴西
- 招募中NCT07517250A Study on the Use of Canakinumab Among Familial Mediterranean Fever and Still's Disease Patients瑞士
- 尚未开始招募NCT07349667Hypnotherapy for Needle-related Procedural Pain and Anxiety Management in a Pediatric Setting丹麦
- 招募中NCT07138898Immunosuppressant Management in Rheumatology Patients Undergoing Elective Total Shoulder Arthroplasty美国
- 招募中NCT07077304EACVI Study on Multimodality Cardiovascular Imaging of Inflammatory Cardiovascular Diseases法国
- 招募中NCT07203001A Phase II Trial to Evaluate the Clinical Efficacy, Safety and Tolerability of MAS825 in Pediatric and Adult Participants With Still's Disease加拿大、法国、德国、意大利、荷兰、西班牙、土耳其、美国
- 尚未开始招募NCT07126145Clinical Autoinflammatory Disease Cohort
- 招募中NCT06838143Ilaris NIS in Korea韩国
- 招募中NCT04902807Conception of a Diagnosis, Prognosis and Therapeutic Decision Tool for Patients With Autoimmunity and Inflammation法国
- 招募中NCT04833465Development of a Therapeutic Endpoint in Pediatric Rheumatologic Conditions美国
- 招募中NCT04402086Rheumatology Patient Registry and Biorepository美国
- 招募中NCT02991469A Repeated Dose-finding Study of Sarilumab in Children and Adolescents With Systemic Juvenile Idiopathic Arthritis (SKYPS)阿根廷、加拿大、芬兰、法国、德国、希腊、爱尔兰、意大利 等 12 国
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）