儿童原发性噬血细胞性淋巴组织细胞增生症的诊治进展  

Progress in diagnosis and treatment of primary hemophagocytic lymphohistiocytosis in children

作　　者：罗章(综述) 于洁(审校)[1] LUO Zhang;YU Jie(Department of Hematology and Oncology,Children′s Hospital of Chongqing Medical University/National Clinical Research Center for Child Health and Disorders/Ministry of Education Key Laboratory of Child Development and Disorders/Chongqing Key Laboratory of Pediatrics,Chongqing 400014,China)

机构地区：[1]重庆医科大学附属儿童医院血液肿瘤科/国家儿童健康与疾病临床研究中心/儿童发育疾病研究教育部重点实验室/儿科学重庆市重点实验室,重庆400014

出　　处：《国际检验医学杂志》2024年第11期1380-1385,共6页International Journal of Laboratory Medicine

摘　　要：噬血细胞性淋巴组织细胞增生症(HLH)是一种以持续发热、全血细胞减少、脾大等为主要表现的严重炎症反应综合征。根据病因可将HLH分为原发性噬血细胞性淋巴组织细胞增生症(pHLH)及继发性噬血细胞性淋巴组织细胞增生症。pHLH是一类隐性遗传病,主要发病机制为细胞毒性T淋巴细胞、自然杀伤细胞的穿孔素依赖的细胞毒功能缺陷。pHLH的确诊主要通过基因测序检测到HLH致病基因突变,而细胞因子谱、淋巴细胞的细胞毒功能检测和HLH缺陷基因蛋白表达检测有助于早期明确HLH类型。目前pHLH的治疗主要采用HLH-1994或HLH-2004诱导治疗方案,但由于其容易出现再激活及持续疾病活动状态的特点,唯一的根治手段是异基因造血干细胞移植。本文旨在选取具有代表性的pHLH,通过对其发病机制、基因、诊断及治疗进行综述。Hemophagocytic lymphohistiocytosis(HLH)is a severe inflammatory response syndrome characterized by persistent fever,pancytopenia,and splenomegaly.Depending on its etiology,HLH can be categorized into primary hemophagocytic lymphohistiocytosis(pHLH)and secondary hemophagocytic lymphohistiocytosis.pHLH is a type of recessive genetic diseases,and the main pathogenesis is perforin-dependent defective lymphocyte cytotoxicity of cytotoxic T lymphocytes and natural killer cells.pHLH is defined as the presence of HLH related gene deficiency through genetic testing,while cytokine profiles,detection of lymphocyte cytotoxicity,and protein expression testing of HLH-deficient gene can help to difine the type of HLH in an early stage.Currently,the treatment of pHLH is based on HLH-1994 or HLH-2004 induction regimens mainly,while due to its susceptibility to reactivation and persistent state of disease activity,the only radical treatment is allogeneic hematopoietic stem cell transplantation.This review article provides an overview of pHLH with updates on pathogenesis,genes,diagnosis,and therapy.

关 键 词：原发性噬血细胞性淋巴组织细胞增生症 诊断 治疗 

分 类 号：R725.5[医药卫生—儿科]