感染相关性噬血细胞综合征的诊疗进展

Progress in the diagnosis and treatment of infection-associated hemophagocytic syndrome

感染相关性噬血细胞综合征(infection-associated hemophagocytic syndrome,IAHS)是由感染因素诱发,严重危及生命的免疫过度激活综合征。它可在基因易感性的基础上由急性感染导致,且常合并有多种并发症,导致诊断延迟,死亡率极高。本文对近几年来IAHS的发病机制、临床症状和体征、诊断进展及治疗和转归等国内外研究进展进行了综述。最新IAHS/噬血细胞性淋巴组织细胞增多症(hemophagocytic hymphohistiocytosis,HLH)相关研究进展提示,IAHS发病机制复杂,可能与免疫细胞过度激活、基因遗传缺陷及Toll样受体活化有关。IAHS患者临床表现复杂,以发热和肝脾淋巴结肿大为主,部分患者还会出现肝功能异常、多浆膜腔积液及多器官功能障碍等危重病情,早期病死率极高。目前,IAHS诊断证据包括国际组织细胞协会制定HLH-2004诊断标准、病原学诊断和HScore方法,但均存在一定的局限性,故寻找特异性及敏感度均较高的早期诊断指标十分重要。IAHS患者治疗重点为病理生理学及免疫学手段,包括抗感染、根据疾病进展情况调整机体免疫水平、异基因造血干细胞移植、对症支持治疗和去除外在刺激因素等,但疗效有待进一步观察。提示早诊断和去除潜在的病因、个体化治疗是改善预后的关键因素。

Infection-associated hemophagocytic syndrome(IAHS)is a life-threatened syndrome of immune overactivation induced by infectious factors. It can be caused by acute infection on the basis of genetic susceptibility and is often associated with multiple complications, leading to delayed diagnosis and extremely high case fatality rate. This article reviews the current progress in reesearch of pathogenesis, clinical symptoms and signs, diagnosis, treatment and fate of IAHS. Recent advances in IAHS/HLH suggested that the pathogenesis of IAHS is complex and may be related to overactivation of immune cells, genetic defects and activation of Toll-like receptors. IAHS patients have complex clinical manifestations, mainly including fever and enlarged lymph nodes of liver and spleen. Some patients also have abnormal liver function, multiple serous effusion, multiple organ dysfunction, etc. The early case fatality rate was very high in critically ill patients. Currently, the diagnosis of IAHS depends on HLH-2004 diagnostic criteria of International Organization Cell Association, etiological diagnosis and HScore method, but there are some limitations. So it is very important to find early diagnostic indicators with high specificity and sensitivity. The treatment of IAHS patients focuses on its pathophysiology and immunology mechanism, including anti-infection, adjustment of immune level according to disease progression, allogeneic hematopoietic stem cell transplantation, symptomatic and supportive treatment, and removal of external stimulating factors,etc. However, their efficacy needs further verification. It is suggested that early diagnosis, removal of potential causes and individualized treatment are the key factors to improve prognosis.