目的 探讨Chediak-Higashi综合征“加速期”的诊断与治疗。方法 报道1例Chediak-Higashi综合征并结合检索国 内文献，采集病例资料，依据不同治疗方案或预后分组比较临床指标。结果 获得34篇文献，共计52例病例。男： 女比例1.17:1；25%患者有家族史；25.8%患者父母近亲结婚。92.3%患者因发热就诊，多有反复感染病史，97.9% 皮肤或毛发色素异常；78.8%淋巴结增大，86.5%脾脏增大，86.5%肝脏增大。64.2%患者血常规两系以上异常。所 有病例血涂片或骨髓检查可见白细胞胞浆内巨大包涵体。化疗组与未化疗组比较，治疗好转率(100% vs 50%，P =0.005)。治疗无效/死亡组与好转组比较，年龄(岁)(1.42±1.30 vs 3.61±1.81 P=0.0016)，脾脏(cm)(6.1±3.4 vs 3.5±2.1，P=0.02)，肝脏(cm)(4.3±2.4 vs 3.0±1.4，P=0.097)，血常规两系降低比例(66.7% vs 55.6%， P=0.58)。结论 大部分CHS患者表现为反复发热，肝、脾、淋巴结肿大，血常规两系以上异常，不足以判断“加速 期”。发病年龄可作为化疗的参考指征，婴儿期发病者死亡率高，化疗有利于控制病情。

Objective To investigate the diagnosis and treatment of Chediak-Higashi syndrome(CHS) in accelerated phase. Methods Report a case and search the case reports of Chediak-Higashi syndrome in domestic literature, and collect the clinical datas for statistical analysis. Results 34 articles, a total of 52 cases were recruited. Male: female ratio of 1.17:1; Twenty five percent patients had family history; in 25.8% consanguineous marriage. 92.3% patients were hospitalized because of fever, many of them had repeated infection history, 97.9% had skin or hair pigmentation disorders; 78.8% had enlarged lymph nodes, 86.5% had splenomegaly and enlargement of liver. More than 64.2% patients had cytopenias (affected more than two lineages). The giant inclusions in the cytoplasmic of white cells in blood or bone marrow smear were found in all cases. The improvement rate in Chemotherapy group was higher than in Un-chemotherapy group (100% vs 50%, P=0.005). Invalid and death group compared with improvement group, age (years) (1.42 ± 1.30 vs 3.61 ± 1.81 P =0.0016), spleen (cm) (6.1 ± 3.4 vs 3.5 ± 2.1, P=0.02), liver (cm) (4.3 ± 2.4 vs 3.0 ± 1.4, P=0.097), cytopenias (affecting more than two of three lineages in the peripheral blood) (66.7% vs 55.6%, P=0.58). Conclusion Most of CHS patients showed recurrent fever, splenomegaly, enlargement of liver and lymph nodes, cytopenias (affected more than two lineages), which were not enough for diagnosis of a accelerated phase. The age of onset could be indication of chemotherapy, early onset of illness was associated with high mortality and chemotherapy helped to control the disease.