CAJ | 학술논문

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。
목적：탐토Chediak-Higashi종합정“가속기”적진단여치료。방법보도1례Chediak-Higashi종합정병결합검색국내문헌，채집병례자료，의거불동치료방안혹예후분조비교림상지표。결과획득34편문헌，공계52례병례。남：녀비례1.17：1；25%환자유가족사；25.8%환자부모근친결혼。92.3%환자인발열취진，다유반복감염병사，97.9%피부혹모발색소이상；78.8%림파결증대，86.5%비장증대，86.5%간장증대。64.2%환자혈상규량계이상이상。소유병례혈도편혹골수검사가견백세포포장내거대포함체。화료조여미화료조비교，치료호전솔(100% vs 50%，P =0.005)。치료무효/사망조여호전조비교，년령(세)(1.42±1.30 vs 3.61±1.81 P=0.0016)，비장(cm)(6.1±3.4 vs 3.5±2.1，P=0.02)，간장(cm)(4.3±2.4 vs 3.0±1.4，P=0.097)，혈상규량계강저비례(66.7% vs 55.6%， P=0.58)。결론대부분CHS환자표현위반복발열，간、비、림파결종대，혈상규량계이상이상，불족이판단“가속기”。발병년령가작위화료적삼고지정，영인기발병자사망솔고，화료유리우공제병정。
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.