罕见病知识库 RareSeen

成人Still病

Adult-onset Still disease

定义 英文原文(暂无中文)

A rare inflammatory multisystem disorder characterized clinically by four cardinal signs: fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.

别名

Wissler-Fanconi综合征

基本事实

遗传方式
不适用
发病年龄
成年期、老年期
患病率
1-9 / 1 000 000(France)

临床表型 59

极常见 99–80%14

  • 关节疼痛 HP:0002829
  • 关节痛/关节炎 HP:0005059
  • 关节炎 HP:0001369
  • C-反应蛋白水平升高 HP:0011227
  • 红细胞沉降速度升高 HP:0003565
  • 红斑 HP:0010783
  • 疲乏 HP:0012378
  • 发热 HP:0001945
  • 血清铁蛋白升高 HP:0003281
  • 白细胞增多症 HP:0001974
  • 关节肿胀 HP:0001386
  • 中性粒细胞增多症 HP:0011897
  • 瘙痒 HP:0000989
  • 皮疹 HP:0000988

常见 79–30%18

  • 腹痛 HP:0002027
  • 贫血 HP:0001903
  • 虚弱 HP:0025406
  • 碱性磷酸酶升高 HP:0003155
  • 循环肝转氨酶水平升高 HP:0002910
  • 全身性淋巴结肿大 HP:0008940
  • 肝脏肿大 HP:0002240
  • 科布纳现象 HP:6000933
  • 淋巴结肿大 HP:0002716
  • 斑丘疹样皮疹 HP:0040186
  • 肌痛 HP:0003326
  • 咽痛 HP:0033050
  • 咽炎 HP:0025439
  • 胸腔积液 HP:0002202
  • 胸膜炎 HP:0002102
  • 脾肿大 HP:0001744
  • 一过性肺浸润 HP:0005828
  • 体重减轻 HP:0001824

偶见 29–5%18

  • 脂代谢异常 HP:0003119
  • 厌食症 HP:0002039
  • 抗核抗体阳性 HP:0003493
  • 骨髓细胞减少 HP:0005528
  • 软骨破坏 HP:0100773
  • 循环醛缩酶浓度升高 HP:0012544
  • 脑病 HP:0001298
  • 噬血细胞作用 HP:0012156
  • 肝炎 HP:0012115
  • 间质性肺炎 HP:0006515
  • 淋巴结炎 HP:0002840
  • 心肌炎 HP:0012819
  • 恶心 HP:0002018
  • 胰腺炎 HP:0001733
  • 心包炎 HP:0001701
  • 蛋白尿 HP:0000093
  • 呼吸窘迫 HP:0002098
  • 类风湿因子阳性 HP:0002923

罕见 <4–1%6

  • 淀粉样变 HP:0011034
  • 结膜炎 HP:0000509
  • 弥漫性血管内凝血 HP:0005521
  • 巩膜外层炎 HP:0100534
  • 非感染性脑膜炎 HP:0033430
  • 葡萄膜炎 HP:0000554

排除 0%3

  • 淋巴瘤 HP:0002665
  • 脓毒症 HP:0100806
  • 重症EB病毒感染 HP:0031693

近两年的全球研究 107L2

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。

  • 2026-08
    Clinical Features and Outcome Measures Across Still Disease (Systemic Juvenile Idiopathic Arthritis and Adult-Onset Still Disease) Cohorts Worldwide: A Systematic Literature Review
    The Journal of rheumatology · DOI · Europe PMC
  • 2026-07
    Acute Adult-Onset Still Disease Presenting as Fever of Unknown Origin and Severe Myalgia in a Resource-Limited Tertiary Hospital in Brazil
    Case reports in medicine · DOI · Europe PMC
  • 2026-07
    Examination of HLA-DRB1*15-linked Candidate Antigens in Still Disease With and Without Lung Disease and Drug-Associated Immune Reactions
    The Journal of rheumatology · 被引 1 · DOI · Europe PMC
  • 2026-06综述病例报告开放获取
    Successful treatment of idiopathic multicentric Castleman disease with TAFRO and kidney involvement: case report and literature review
    Renal failure · DOI · Europe PMC
  • 2026-06开放获取
    Malignancy rates in children, young people and adults with JIA: an observational study using CPRD Aurum
    Rheumatology (Oxford, England) · DOI · Europe PMC
  • 2026-05
    Autoinflammatory syndromes in chronic urticaria are rare but clinically distinct: A retrospective cohort study
    JAAD international · DOI · Europe PMC
  • 2026-05病例报告开放获取
    Severe Hyperferritinemia in Metabolic Dysfunction-Associated Steatotic Liver Disease With Normal Transferrin Saturation and Polyclonal Hypergammaglobulinemia Mimicking Iron Overload
    Cureus · DOI · Europe PMC
  • 2026-04病例报告开放获取
    Autoimmune Progesterone Dermatitis: A Case Report and Review of Literature
    Cureus · DOI · Europe PMC
  • 2026-04病例报告开放获取
    Severe Treatment-Refractory Macrophage Activation Syndrome: Hemophagocytic Lymphohistiocytosis Presenting With Neurologic Crisis in Systemic Lupus Erythematosus
    Cureus · DOI · Europe PMC
  • 2026-04开放获取
    The Role of Extracorporeal Membrane Oxygenation in Cardiopulmonary Dysfunction Due to Rheumatologic Diseases: A Systematic Review
    ACR open rheumatology · DOI · Europe PMC
  • 2026-03开放获取
    Sex-based differences in penicillin allergy labeling among adults in a Canadian ambulatory urgent medicine clinic: a cross-sectional study
    Antimicrobial stewardship & healthcare epidemiology : ASHE · DOI · Europe PMC
  • 2026-03病例报告开放获取
    Case Report: Flagellate eruption of adult-onset still disease in an Afro-Caribbean woman: highlighting atypical cutaneous disease in richly pigmented skin
    Frontiers in immunology · DOI · Europe PMC
  • 2026-03开放获取
    Proceedings of the 2&lt;sup&gt;nd&lt;/sup&gt; Symposium "Autoimmune Diseases -Clinical Unmet Needs in Systemic Autoimmune Diseases Guide Clinical, Translational, and Basic Research"
    Mediterranean journal of rheumatology · DOI · Europe PMC
  • 2026-03开放获取
    Reliability and Construct Validity of the Physician's Global Assessment of Lung Disease in Systemic Juvenile Idiopathic Arthritis-Associated Lung Disease
    ACR open rheumatology · DOI · Europe PMC
  • 2026-03综述开放获取
    Elucidating the grading intricacies of idiopathic multicentric Castleman disease histopathology: a pathologist's perspective
    American journal of clinical pathology · DOI · Europe PMC
  • 2026-02
    A Multifaceted Interplay Among Hemophagocytosis, Interleukin-18, and Type I Interferon Distinguishes Still Disease From Other Autoinflammatory Diseases
    Arthritis & rheumatology (Hoboken, N.J.) · 被引 1 · DOI · Europe PMC
  • 2026-02
    A Case of Refractory Adult-Onset Still Disease With Macrophage Activation Syndrome and Pulmonary Alveolar Proteinosis
    The Journal of rheumatology · DOI · Europe PMC
  • 2026-02开放获取
    Concurrent Idiopathic Multicentric Castleman Disease with TAFRO and Sjögren's Syndrome in a Young Patient: A Challenging Diagnostic Overlap
    European journal of case reports in internal medicine · DOI · Europe PMC
  • 2026-02
    Visualization analysis of the use of traditional Chinese medicine in the diagnosis and treatment of rare diseases in mainland China based on CiteSpace
    Intractable & rare diseases research · DOI · Europe PMC
  • 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
    The Journal of rheumatology · 被引 1 · DOI · Europe PMC

在中国开展的临床试验 3L2

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 1

  • 招募中NCT07191444
    A Study of Firsekibart Versus Anakinra in Adult-Onset Still's Disease
    观察性 · 2025/09/24Ruijin Hospital
    中国研究中心 1 个:Shanghai
其他状态的试验(2 项)
  • 状态未知NCT03651193
    Multi-center Registration Study of Adult Onset Still's Disease in Chinese Population
    观察性 · 2018/11/28Second Xiangya Hospital of Central South University
    中国研究中心 1 个:Hunan
  • 进行中·不再招募NCT07151157
    Therapeutic Value of Sirolimus in Refractory Adult-Onset Still's Disease
    不适用 · 干预性 · 2025/08/30Ruijin Hospital
    中国研究中心 1 个:Shanghai

中国境外的在招试验 7L2

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3法国2瑞士1加拿大1德国1意大利1荷兰1西班牙1土耳其1比利时1

CT.gov 报告命中 7 项,此处取回并展示最近的 6 项。

  • 招募中NCT07517250
    A Study on the Use of Canakinumab Among Familial Mediterranean Fever and Still's Disease Patients
    观察性 · 2026/03/15Novartis Pharmaceuticals
    瑞士
  • 招募中NCT07203001
    A Phase II Trial to Evaluate the Clinical Efficacy, Safety and Tolerability of MAS825 in Pediatric and Adult Participants With Still's Disease
    II 期 · 干预性 · 2025/11/03Novartis Pharmaceuticals
    加拿大、法国、德国、意大利、荷兰、西班牙、土耳其、美国
  • 招募中NCT04402086
    Rheumatology Patient Registry and Biorepository
    观察性 · 2020/08/04Yale University
    美国
  • 招募中NCT03510442
    Natural History, Genetics, and Pathophysiology of Systemic Juvenile Idiopathic Arthritis, Adult-Onset Still's Disease, and Related Conditions
    观察性 · 2018/05/21National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
    美国
  • 招募中NCT05927454
    Acostill ( RaDiCo Cohort) (RaDiCo Acostill)
    观察性 · 2017/07/11Institut National de la Santé Et de la Recherche Médicale, France
    法国
  • 招募中NCT02143986
    Glycosylated Ferritin in Macrophagic Activation Syndromes
    观察性 · 2014/05Brugmann University Hospital
    比利时

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)