| 摘要: |
| ［摘要］ Ⅰ型干扰素通路病是一类由单基因突变引起的自身炎症性疾病，其特征是Ⅰ型干扰素信号通路异常激活，导致广泛的全身性炎症反应。在日常自身免疫性疾病诊疗中，早期识别这类疾病至关重要。对于起病年龄小、多系统炎症表现及自身抗体阳性的患者，临床医师应高度警惕Ⅰ型干扰素通路病，必要时进行基因检测以尽早诊断。早期诊断，精准治疗，不仅有助于及时控制炎症，还能有效预防或减缓脏器损伤的进展，显著改善患者的长期预后。 |
| 关键词: Ⅰ型干扰素通路病 儿童 基因突变 诊断 靶向治疗 自身炎症性疾病 |
| DOI：10.3969/j.issn.1674-3806.2024.09.01 |
| 分类号:R 725.9 |
| 基金项目: |
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| Recognizing pediatric type Ⅰ interferonopathy in children—early identification, precision treatment and improved prognosis |
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GAO Fengqiao, LI Caifeng
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Department of Rheumatology, Beijing Children′s Hospital, Capital Medical University, National Center for Children′s Health, Beijing 100045, China
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| Abstract: |
| ［Abstract］ Type Ⅰ interferonopathy is a type of autoinflammatory diseases caused by single gene mutation, characterized by abnormal activation of type Ⅰ interferon signaling pathway, leading to widespread systemic inflammatory response. In the daily diagnosis and treatment of autoimmune diseases, early identification of type Ⅰ interferonopathy is crucially important. For the patients with onset of diseases at a young age and presented with multi-system inflammatory manifestations and positive autoantibodies, clinicians should be highly vigilant about type Ⅰ interferonopathy and perform genetic testing for early diagnosis if necessary. Early diagnosis and precision treatment not only help to control inflammation in time, but also effectively prevent or slow down the progression of organ injury, and significantly improve the long-term prognosis of the patients. |
| Key words: Type Ⅰ interferonopathy Children Gene mutation Diagnosis Targeted treatment Autoinflammatory diseases |
