Omenn综合征1例及相关文献复习  

Omen Syndrome:A Case Report and Review of Related Literature

作　　者：岳淑珍 罗鸯鸯[1] 李珂瑶 张圆圆 汤建萍[1] 周斌[1] YUE Shu-zhen;LUO Yang-yang;LI Ke-yao(Department of Dermatology,Hunan Children's Hospital,Changsha Hunan 410007)

机构地区：[1]湖南省儿童医院皮肤科,湖南长沙410007

出　　处：《医学临床研究》2022年第11期1612-1614,共3页Journal of Clinical Research

基　　金：湖南省自然科学基金(2021JJ40273)。

摘　　要：【目的】探讨Omenn综合征的病因、发病机制、诊断标准、鉴别诊断及治疗。【方法】报道1例Omenn综合征的病例资料并进行相关的文献复习。【结果】收治的1例1岁2个月女童,反复咳嗽及发热,全身反复红斑、脱屑,既往史、个人史无特殊,姐姐有“自身免疫性溶血”史,已死亡。基因检查结果显示RAG1纯合变异,治疗效果差。【结论】Omenn综合征预后差,常因器官衰竭、重症感染而死亡。【Objective】To investigate the etiology,pathogenesis,diagnostic criteria,differential diagnosis and treatment of Omenn syndrome.【Methods】A case of Omenn syndrome was reported and the related literature was reviewed.【Results】A girl aged 1 year and 2 months had recurrent cough and fever,repeated erythema and scaling all over her body.There was no special history and personal history.Her sister had a history of"autoimmune hemolysis"and died.The results of gene examination showed that RAG1 was homozygous and the therapeutic effect was poor.【Conclusion】The prognosis of Omenn syndrome is poor,and it often dies of organ failure and severe infection.

关 键 词：重症联合免疫缺陷 综合征 病例报告 

分 类 号：R725.933[医药卫生—儿科]