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目的:探讨新生儿噬血细胞综合征(neonatal hemophagocytic syndrome，N-HPS)的临床及实验室检查特点，提高对N-HPS的认识。方法:回顾性分析西安市儿童医院2013年1月至2019年1月7例N-HPS患儿病例资料。并以“淋巴组织细胞增多症”、“噬血性”、“巨噬细胞活化综合征”、“婴儿”、“新生”、“hemophagocytic”、“lymphohistiocytosis”等为关键词，分别对中国期刊全文数据库、万方数据库、国家科技图书文献中心、中国科技论文在线、生物医学文献数据库、Web of Science、Embase数据库自建库至2019年8月收录的文献进行检索，总结N-HPS临床及实验室检查特点。结果:本院7例患儿中男6例，女1例，足月儿5例，有阳性家族史1例；6例以发热为首发症状，6例肝脾肿大或肝大，3例合并呼吸道感染；7例有高铁蛋白血症，6例有低纤维蛋白原和(或)高三酰甘油血症，其他表现有外周血两系及以上血细胞减少、自然杀伤细胞活性下降、骨髓细胞中噬血现象、可溶性CD25活性升高等；单纯疱疹病毒(herpes simplex virus，HSV)感染2例；PRF1基因突变1例。7例予免疫球蛋白及对症支持治疗，2例HSV感染患儿予阿昔洛韦治疗；最终治愈3例，死亡4例。共纳入21篇文献，包括24例N-HPS患儿，平均发病日龄5.1 d，发热21例，低体温1例；肝大、脾大、外周血两系及以上血细胞减少各20例；20例行铁蛋白检查，升高19例，17例>1 000 μg/L；噬血现象18例；低纤维蛋白原和(或)高三酰甘油17例；10例行自然杀伤细胞活性检查，下降6例；8例行可溶性CD25活性检查，升高7例；转氨酶升高12例，胆汁淤积5例。病毒感染7例(其中HSV感染3例)，细菌感染5例。自身抗体系列阳性4例。基因异常4例，其中PRF1基因突变3例，UNC13D基因突变1例。24例患儿最终治愈12例，死亡9例，好转2例，1例治疗及预后不详。结论:N-HPS常见临床表现有发热、肝脾大，可累及多个系统，病因与PRF1基因突变、细菌或病毒感染有关，病死率较高。实验室检查可见外周血细胞减少、噬血现象及铁蛋白升高。治疗以免疫球蛋白和(或)糖皮质激素为主，同时治疗原发病。“,”Objective:To study the clinical characteristics, laboratory examinations of neonatal hemophagocytic syndrome(N-HPS) and improve the understanding of N-HPS.Method:From January 2013 to January 2019, seven cases of N-HPS admitted to our hospital were reviewed.The related literatures were searched from the listed databases below: China national knowledge infrastructure, Wanfang database, National Science Technology Library, China science paper online, PubMed, Web of Science, and Embase. “hemophagocytic” , “lymphohistiocytosis” , “macrophage activation syndrome” , “infant” and “newborn” were used as keywords. The clinical manifestations, laboratory examinations, treatment and results of long-term follow-up were analyzed.Result:A total of 7 cases (6 male and 1 female) were admitted to our hospital, including 5 full-term infants and 2 preterm infants.1 case had positive family history. The presenting symptoms included fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia and/or hypofibrinogenemia and decreasing NK cell activity. The ferritin and the soluble CD25 concentrations were elevated, and bone marrow morphology showed hemophagocytosis. Elevated transaminase and cholestasis can also be found. 1 case was diagnosed as primary N-HPS with PRF1 gene mutation, while 2 secondary N-PHS cases of herpes simplex virus (HSV) infection were confirmed. All patients were treated with immunoglobulin and supportive therapy. Additionally, the 2 secondary N-PHS cases with HSV infection were treated with acyclovir. As for the outcome, 3 cases showed complete remission and 4 cases were dead. A total of 21 articles and 24 cases were retrieved. The average onset age was 5.1 days. 21 cases had fever and 1 case had hypothermia. Hepatosplenomegaly and cytopenia were found in 20 cases, affecting 2 of 3 lineages in the peripheral blood. Among the 20 cases with ferritin results, 19 cases showed elevated ferritin level (17 cases>1 000 μg/L). 17 cases had hypertriglyceridemia and/or hypofibrinogenemia. 12 cases had elevated transaminase and 5 cases had cholestasis. Hemophagocytosis was found in 18 cases without evidence of malignancy; Among the 10 cases NK cell function tested, 6 cases showed reduced NK cell function. The soluble CD25 concentrations were tested in 8 cases and 7 cases had an elevated level. 7 cases had viral infection (HSV in 3 cases ) and 5 cases had bacterial infection. 4 cases had positive anti-nuclear antibody. 4 cases showed genetic mutations, including 3 cases of PRF1 mutation and 1 case of UNC13D mutation. Among the 24 cases, 12 cases showed complete remission, 2 cases showed relieved symptom, 9 cases were dead and 1 case had unknown treatment and prognosis.Conclusion:N-HPS is a rare disease in the neonatal period with high mortality rate. The most common risk factor of N-HPS was PRF1 mutation and the second common factor is infection, especially HSV. The clinical characteristics include fever, hepatosplenomegaly, cytopenia affecting at least two of three lineages in the peripheral blood, hemophagocytosis and elevated ferritin. Immunological testing is helpful for early diagnosis and positive genetic mutations are risk factors. Early use of immunoglobulin and/or glucocorticoid and proactive treatment of primary diseases can improve the survival rate of infants.