婴幼儿全身型幼年特发性关节炎继发巨噬细胞活化综合征七例分析  

Analysis of 7 cases of macrophage activation syndrome secondary to systemic juvenile idiopathic arthritis in infants and toddlers

作　　者：苏改秀 王新宁 张丹[1] 侯俊 许瑛杰[1] 朱佳 周志轩[1] 赖建铭 Su Gaixiu;Wang Xinning;Zhang Dan;Hou Jun;Xu Yingjie;Zhu Jia;Zhou Zhixuan;Lai Jianming(Department of Rheumatology and Immunology,Capital Institute of Pediatrics,Beijing 100020,China)

机构地区：[1]首都儿科研究所风湿免疫科,北京100020

出　　处：《中华风湿病学杂志》2021年第12期805-810,I0002,共7页Chinese Journal of Rheumatology

摘　　要：目的探讨婴幼儿期全身型幼年特发性关节炎(SJIA)继发巨噬细胞活化综合征(MAS)的临床特点及诊疗。方法选取2018年1月1日至2020年1月1日收治的7例SJIA-MAS患儿,收集其临床及实验室指标,并分析总结其诊疗及转归。结果7例患儿中男性2例,女性5例,年龄11个月至2岁11月,病程14~32 d。临床表现包括:发热、皮疹7例,均无明确关节炎表现;肝脾淋巴结肿大7例;血液系统受累7例;神经系统受累2例;消化系统受累7例;呼吸系统受累7例;心血管受累3例;无明确肾脏受累病例。7例患儿中白细胞降低1例,血小板降低1例,血红蛋白下降7例。铁蛋白、TG、ALT及AST均升高,纤维蛋白原(FIB)均显著降低,4例患儿直接胆红素升高。细胞因子IL-2受体均显著升高。4例患儿骨髓可见吞噬血细胞现象。1例脑脊液蛋白2005 mg/L,显著升高。7例患儿均行全外显子基因检测,无明确致病突变。7例患儿行肺部CT检查均提示肺部病变。1例患儿头颅核磁提示多发脱髓鞘病变。1例患儿应用甲泼尼龙冲击联合IL-6受体拮抗剂托珠单抗治疗,其余6例均应用甲泼尼龙冲击联合环孢素A口服治疗,其中2例同时联合JAK抑制剂托法替布治疗。7例患儿经治疗MAS均获得了缓解,无死亡病例,持续随访无复发病例。结论婴幼儿MAS起病急,进展快,易累及多器官,而早期关节炎症并不突出,稽留高热、血细胞进行性减少、血清铁蛋白增高对MAS发生具提示意义。大剂量糖皮质激素联合环孢素A治疗可使大部分患儿获益,部分重症患儿需联合生物制剂治疗。Objective To investigate the clinical features,diagnosis and treatment of systemic juvenile idiopathic arthritis(SJIA)complicated with macrophage activation syndrome(MAS).Methods From January 1st,2018 to January 1st,2020,7 cases of SJIA-MAS were diagnosed.Their clinical and laboratory data were collected and summarized.Results In these 7 cases,2 were males and 5 were females,the ratio of male to female was 2∶5.The age range was 11 months to 2 years old.The course of disease was 14 to 32 days.The clinical manifestations included fever and rash in 7 without arthritis;hepatomegaly,splenomegaly and lymphadenopathy in 7;hematological involvement in 7;nervous system involvement in 2;digestive system involvement in 7;respiratory system involvement in 7;cardiovascular involvement in 3.White blood cell was decreased in 1 case,platelet was decreased in 1 case and hemoglobin was decreased in 7 cases.Ferritin,triglyceride,alanine transaminas and aspartate aminotransferase were increased in 7 cases,fibrinogen was significantly decreased in 7 cases,and direct bilirubin was increased in 4 cases.IL-2R was significantly increased.Hemophagocytosis was observed in bone marrow of 4 cases.Cerebrospinal fluid protein was 2005 mg/L in 1 case.All the 7 cases were tested for exon genes,and no pathogenic mutation was found.All of the 7 cases showed lung lesions in chest CT scan.Multiple demyelinating lesions were found in 1 case by head magnetic resonance imaging.One case was treated with high-dose intravenous methylprednisolone combined with IL-6 receptor antagonist(tocilizumab).The other 6 cases were treated with high-dose intravenous methylprednisolone combined with cyclosporine A(CsA).Two cases were treated with Janus kinases inhibitor(tofacitinib).After treatment,7 cases got relieved,no death,no recurrence oocurred during the follow-up.Conclusion Acute onset,multiple organ involvement and no joint inflammation are prominent in MAS of infants and toddlers.High fever,proressive reduction of blood cells and increase of SF are signific

关 键 词：婴幼儿 全身型幼年特发性关节炎 巨噬细胞活化 

分 类 号：R725.9[医药卫生—儿科]