摘要
系统性红斑狼疮的发病机制较为复杂,目前认为与遗传、环境及免疫等因素相关。随着基因检测技术的发展,越来越多的单基因狼疮被发现。根据致病基因/途径的不同,儿童单基因狼疮的临床表现也不同,有不同的靶向治疗方案。该文将总结不同通路儿童单基因狼疮的临床特点和可能的治疗靶点,为临床医师早期识别单基因狼疮患者提供帮助,并尽早进行个体化治疗。
The pathogenesis of systemic lupus erythematosus is complex,and it is currently believed that genetic susceptibility,immune and environmental factors are involved.With the development of gene detection technology,more and more monogenic lupus has been found.The different genetic variants and the causal molecular pathway are associated with distinct clinical manifestations and have different suitable targeted therapies.This article aims to summarize the clinical characteristics and possible targets for therapies of monogenic lupus in children with different pathways,hoping to provide clues for clinicians to identify patients with monogenic lupus in the early stage and to provide individualized treatment as soon as possible.
作者
张天誉
马明圣
ZHANG Tian-yu;MA Ming-sheng(Department of Pediatrics,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)
出处
《中国实用儿科杂志》
CSCD
北大核心
2023年第6期459-463,共5页
Chinese Journal of Practical Pediatrics
基金
国家重点研发计划(2021YFC2702001)
中国医学科学院医学与健康科技创新工程(2021-I2M-C&T-B-008)
北京协和医院中央高水平医院临床科研专项(2022-PUMCH-B-079)。
关键词
儿童
单基因
狼疮
临床表现
治疗
child
monogenic
lupus
clinical manifestations
treatment
