Cryopyrin蛋白相关的周期性综合征

定义

Cryopyrin蛋白相关周期综合征（CAPS）是指一组自身炎性疾病，其主要临床表现为没有感染或自身免疫性疾病的情况下出现全身性炎症反应反复发作。CAPS包括3种不同严重程度的疾病：重度的CINCA综合征、中度的Muckle-Wells综合征（MWS）和轻度的家族性冷性荨麻疹（FCAS）（见术语）。

别名

NLRP3相关全身性自身炎症性疾病

基本事实

遗传方式

常染色体显性、不适用

发病年龄

青少年期、儿童期、婴儿期、新生儿期

患病率

1-9 / 1 000 000（France）

相关基因 4来自下位疾病

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

近两年的全球研究 12L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 12 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

• 2026-05病例报告开放获取
  Adult-Diagnosed NLRP3-Associated Autoinflammatory Disease Presenting With Blurry Vision and Elevated Serum Amyloid A
  ACR open rheumatology · DOI · Europe PMC
• 2026-04综述开放获取
  NLRP12 as a Regulator of Inflammation: Insights into the Correlation with Autoinflammatory Disorders
  Genes · DOI · Europe PMC
• 2026-03预印本开放获取
  Integrated multi‑omics defines immune programmes underlying progression to rheumatoid arthritis in anti-citrullinated protein antibody positive individuals with arthralgia and palindromic rheumatism
  · DOI
• 2026-01综述开放获取
  NLRP3 Inflammasome Role and NLRP3 Inhibitors in Sensorineural Hearing Loss
  Biomolecules
• 2025-12开放获取
  Frailty-Driven Risk Stratification in Age-Related Ophthalmic Diseases: Thresholds, Precision Screening, and Mendelian Randomization Insights
  Translational vision science & technology · DOI · Europe PMC
• 2025-08病例报告开放获取
  Adult onset cryopyrin-associated periodic syndrome due to germline missense mutation in <i>NLRP3</i> in a previously healthy middle-aged woman
  Frontiers in immunology · DOI · Europe PMC
• 2025-08病例报告开放获取
  Case Report: A heterozygous mutation of NLRP3 in a Chinese child with NLRP3-AID
  Frontiers in pediatrics · 被引 1 · DOI · Europe PMC
• 2025-04开放获取
  Undifferentiated autoinflammatory disease in adults: a prospective study in 61 patients
  Orphanet journal of rare diseases · 被引 2 · DOI · Europe PMC
• 2025-03病例报告
  Two Novel Variants in the LRR Domain of <i>NLRP3</i> Causing Leukoencephalopathy: A Case Report
  Discovery medicine · DOI · Europe PMC
• 2024-12开放获取
  Optic disc changes in Chinese patients with <i>NLRP3</i>-associated autoinflammatory disease
  Annals of medicine · 被引 1 · DOI · Europe PMC
• 2024-11综述开放获取
  The riddle of recurrent fever: a clinical approach to pediatric autoinflammatory diseases
  Frontiers in pediatrics · 被引 2 · DOI · Europe PMC
• 2024-08综述开放获取
  Implication of the LRR Domain in the Regulation and Activation of the NLRP3 Inflammasome
  Cells · 被引 17 · DOI · Europe PMC

在中国开展的临床试验 2L2

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。

当前没有检索到登记为可入组的试验。

中国境外的在招试验 6L2

共 6 项。

• 招募中NCT06544018
  Circadian Rhythm Deregulation in Patients With CAPS
  不适用 · 干预性 · 2026/02/25Hospices Civils de Lyon
  法国
• 招募中NCT07247266
  Study to Evaluate the Safety, Tolerability, Efficacy and Pharmacokinetics of JTE-162 in Subjects With Cryopyrin-Associated Periodic Syndrome (CAPS)
  I 期 · 干预性 · 2026/02/02Akros Pharma Inc.
  加拿大
• 招募中NCT06974877
  Repeat PET/CT Imaging in People With CAPS and Anakinra-Induced Amyloidosis Using an Amyloid-Reactive Peptide to Measure Changes in Organ-Specific Amyloid Load
  I 期 · 干预性 · 2025/09/10National Institute of Allergy and Infectious Diseases (NIAID)
  美国
• 招募中NCT06838143
  Ilaris NIS in Korea
  观察性 · 2025/03/29Novartis Pharmaceuticals
  韩国
• 尚未开始招募NCT05292768
  Are Mast Cells Involved in Autoinflammatory Diseases
  观察性 · 2022/03Assistance Publique - Hôpitaux de Paris
  法国
• 招募中NCT02974595
  Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still'S-like Diseases, and Other Undifferentiated Autoinflammatory Diseases)
  观察性 · 2016/12/09National Institute of Allergy and Infectious Diseases (NIAID)
  美国

外部标识与链接