Ⅰ型干扰素病诊疗中国专家共识
Consensus of Chinese Experts on the Diagnosis and Treatment of Type Ⅰ Interferonopathy
中国儿童风湿免疫病联盟 1中国药师协会罕见病用药工作委员会 1宋红梅1
作者信息
- 1. 中国医学科学院北京协和医院儿科疑难重症及罕见病全国重点实验室国家罕见病医疗质量控制中心,北京 100730
- 折叠
摘要
Ⅰ型干扰素病是一类可累及全身多个脏器的自身炎症性疾病,具有较高致残率和致死率,严重影响患儿的生活质量,给家庭和社会带来负担.其临床表型谱宽泛,早期识别较为困难,诊断及治疗的延误会导致病情的加重且难以逆转,影响预后.中国儿童风湿免疫病联盟及中国药师协会罕见病用药工作委员会制定该共识,旨在对Ⅰ型干扰素病的定义、基因分类、临床表现、诊断及治疗给予相应的建议.
Abstract
Type Ⅰ interferonopathy is an autoinflammat ory disease that affects multiple systems,with a high disability and mortality rate.It profoundly impacts the quality of life of patients and poses a considerable burden on their families and society.Due to the broad spectrum of clinical phenotypes associated with this con-dition,early identification remains challenging.Delays in diagnosis and treatment can exacerbate the disease,making it difficult to reverse the conditions and adversely affecting the prognosis.Therefore,the Chinese Alli-ance of Pediatric Rheumatic & Immunologic Diseases and Chinese Pharmacists Association Rare Diseases Medi-cation Working Committee has developed this consensus document to offer detailed recommendations pertaining to the definition,genetic categorization,clinical presentations,diagnostic approaches,and therapeutic manage-ment of type Ⅰ interferonopathy.
关键词
1型干扰素病/诊疗/共识Key words
type Ⅰ interferonopathy/diagnosis and treatment/consensus引用本文复制引用
出版年
2024
NETL
NSTL
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