疑难发热待查:8号染色体三体综合征合并自身免疫病的临床特点分析  

Refractory fever of unknown origin:analysis of clinical characteristics of patients with trisomy 8 syndrome and autoimmune diseases

作　　者：陈文欣 何张玙璠 唐依婷 刘倩倩 周晛 邵凌云 张文宏 高岩 Chen Wenxin;He Zhangyufan;Tang Yiting;Liu Qianqian;Zhou Xian;Shao Lingyun;Zhang Wenhong;Gao Yan(Department of Infectious Diseases,Huashan Hospital,Fudan University,Shanghai Key Laboratory of Infectious Diseases and Biosecurity Emergency Response,National Medical Center for Infectious Diseases,Shanghai 200040,China)

机构地区：[1]复旦大学附属华山医院感染科,上海市传染病与生物安全应急响应重点实验室,国家传染病医学中心,上海200040

出　　处：《中华传染病杂志》2024年第10期597-601,共5页Chinese Journal of Infectious Diseases

基　　金：国家自然科学基金(82171743)。

摘　　要：目的通过分析8号染色体三体综合征合并自身免疫病伴发热患者的临床特点,为疑难发热待查的诊断及治疗提供新思路。方法纳入2021年7月1日至2024年5月1日在复旦大学附属华山医院就诊,以"发热待查"收入住院,最终诊断为8号染色体三体综合征合并自身免疫病的患者。本研究为回顾性队列研究,收集纳入患者的临床资料,根据病原学证据将纳入患者分成感染组和非感染组,对临床特点和治疗进行分析。统计学方法采用曼-惠特尼U检验。结果纳入的9例患者中,1例合并白塞综合征,且无骨髓增生异常综合征(MDS),未合并感染;8例合并MDS,其中白塞综合征-MDS 6例,过敏性肺炎1例,类风湿性关节炎1例。合并MDS的患者中6例合并感染。感染组C反应蛋白为72.39(14.62,132.70)mg/L,高于非感染组的3.68(2.30,10.09)mg/L,差异有统计学意义(Z=1.00,P=0.048)。感染组与非感染组的其他炎症相关指标(如外周血白细胞计数、血小板计数、红细胞沉降率、铁蛋白、中性粒细胞CD64指数等)差异均无统计学意义(均P>0.05)。6例感染患者中,1例为细菌感染;5例为真菌感染,其中2例为播散性曲霉感染,1例为细菌、真菌和病毒等多种病原体感染,1例为毛霉合并粪肠球菌感染,1例为肺部曲霉合并播散性脓肿分枝杆菌感染。9例患者中,8例采用以糖皮质激素和(或)沙利度胺等为核心的免疫抑制剂治疗,6例感染患者均在抗感染的基础上采用上述免疫治疗;8例病情稳定并继续治疗随访中,1例因病情加重而死亡。结论8号染色体三体综合征合并自身免疫病临床少见,合并感染的患者除抗感染治疗外需予糖皮质激素、沙利度胺等药物抑制炎症反应,病情可得到良好控制。ObjectiveTo conduct a thorough analysis of the clinical characteristics in patients with trisomy 8 syndrome and autoimmune diseases,and to provide a new perspective on the diagnosis and management of the fever of unknown origin(FUO).MethodsPatients who were admitted to Huashan Hospital,Fudan University between July 1st,2021 and May 1st,2024 for FUO and subsequently diagnosed with trisomy 8 syndrome with autoimmune diseases were included.In this retrospective cohort study,patients were divided into infection and non-infection group according to the etiological evidence,and the clinical characteristics and treatments were collected and compared between the two groups.Statistical analysis was performed using the Mann-Whitney U test.ResultsAmong the nine enrolled patients,one case was associated with Behet syndrome(BD)without myelodysplastic syndrome(MDS)and without co-occurring infection,eight cases were associated with MDS,among which six cases had both BD and MDS,one case had allergic pneumonia,and one case had rheumatoid arthritis.Six MDS cases had infections.The C-reactive protein(CRP)level in the infection group was significantly higher than that in the non-infection group(72.39(14.62,132.70)mg/L vs 3.68(2.30,10.09)mg/L;Z=1.00,P=0.048).There were no statistically significant differences in other inflammatory markers(such as white blood cell count,platelet count,erythrocyte sedimentation rate,ferritin,and neutrophil CD64 index)between the infection and non-infection groups(all P>0.05).In the infection group,one had bacterial infection,five had fungal infections,including two cases of disseminated aspergillosis,one case of mixed bacterial,fungal,and viral infections,one case of mucormycosis combined with Enterococcus faecalis infection,and one case of pulmonary aspergillosis combined with disseminated Mycobacterium abscessus infection.Among the nine patients,eight patients received immunosuppressive treatment centered on the glucocorticoids and(or)thalidomide,and all six infected patients received the above immun

关 键 词：原因不明发热 8号染色体三体 自身免疫疾病 感染 

分 类 号：R51[医药卫生—内科学]