家族性噬血细胞性淋巴组织细胞增生症合并UNC13D基因突变3例病例总结并文献复习  

Clinic Alanalysis of Three Familial Hemophagocytic Lymphohistiocytosis Children with UNC13D Gene Mutation

作　　者：钱冰涛 王萌[1] 王泽芯 罗荣牡 宋庆[1] Qian Bing-tao;Wang Meng;Wang Ze-xin;Luo Rong-mu;SONG Qing(Aerospace Center Hospital,Haidian 100049,Beijing,China)

机构地区：[1]航天中心医院儿科,北京海淀100049

出　　处：《罕少疾病杂志》2023年第7期8-10,共3页Journal of Rare and Uncommon Diseases

摘　　要：目的回顾性总结家族性噬血细胞性淋巴组织细胞增生症(FLH)临床资料,为临床诊治提供思路。方法选取3例于2020年5月至2022年10月北京航天中心医院儿科住院并确诊为家族性儿童噬血细胞性淋巴组织细胞增生症(UNC13D基因突变)的临床资料及实验室检测结果进行回顾性分析,总结临床特点、治疗效果及随访,结合文献分析。结果3例家族性噬血细胞性淋巴组织细胞增生症(FLH),多器官受累,多脏器损伤,化疗和对症治疗后,3例均存在UNC13D基因突变,进行异基因造血干细胞移植,随访至2023年6月1日,排异反应已控制。结论诊断为噬血细胞性淋巴组织细胞增生症的儿童,建议尽早进行相关基因突变的筛查,明确病因,有助于病因治疗。Objective To review the clinical data of familial hemophagocytic lymphohistiocytosis(FHL)in children,which provide basis for prevention and treatment of HLH.Methods Clinical data of 3 patients suffering from hemophagocytic lymphohistiocytosis(UNC13D gene mutation)were retrospectively analyzed in Hospital of the Aerospace Center Hospital from May 2020 to October 2020.Summarize the clinical characteristics,treatment effect and follow-up.Results Multiple organs of 3 FHL patients are involved and the disease progresses rapidly.Follow up until October 1,2022,3 children had undergone hematopoietic stem cell transplantation,and the rejection reaction had been controlled.Conclusion There may be UNC13D gene mutation in children with HLH,which is one of the important reasons for the pathogenesis and poor prognosis of HLH.Therefore,for children with recurrent fever and hepatosplenic lymphadenopathy at a young age,it is recommended to screen relevant gene mutations as early as possible when they are diagnosed with HLH.Allogeneic hematopoietic stem cell transplantation is a radical treatment for FHL in children.

关 键 词：儿童噬血细胞性淋巴组织细胞增生症 UNC13D 儿童 

分 类 号：R331.144[医药卫生—人体生理学]