摘要
儿童C1QC基因复合杂合变异所致系统性红斑狼疮(SLE)临床罕见。本文总结1例4岁男患儿因该变异导致SLE的诊疗过程并进行文献复习,旨在提高临床医生对该病的认识,为优化诊疗策略提供参考。
Systemic lupus erythematosus(SLE)caused by a compound heterozygous variation of the C1QC gene is clinically rare in children.This article summarizes the diagnosis and treatment process of a 4-year-old boy caused by this variant,and conducts a literature review.The aim is to enhance clinicians’understanding of this disease and provide a reference for optimizing treatment strategies.
作者
杜王楠
Aqsa Ahmad
张艳
马强
陈晓媛
梁丽俊
DU Wangnan;Aqsa Ahmad;ZHANG Yan;MA Qiang;CHEN Xiaoyuan;LIANG Lijun(The First Clinical Medical College of Ningxia Medical University,Ningxia Hui Autonomous Region,Yinchuan 750004,China;Ningxia Vocational College of Health Sciences,Ningxia Hui Autonomous Region,Shizuishan 753000,China;Department of Pediatrics,General Hospital of Ningxia Medical University,Ningxia Hui Autonomous Region,Yinchuan 750000,China)
出处
《妇儿健康导刊》
2026年第6期53-56,共4页
Journal of Women and Children's Health Guide
基金
中国红十字基金会儿科肾脏医学中青年医师成长科研项目(HX-2025-013)。
关键词
C1QC基因
复合杂合变异
儿童系统性红斑狼疮
狼疮脑病
单基因狼疮
C1QC gene
Compound heterozygous variation
Systemic lupus erythematosus in children
Lupus encephalopathy
Monogenic lupus erythematosus
