38例噬血细胞综合征病因分析

Etiology Analysis of 38 Patients with Hemophagocytic Syndrome

本研究探讨噬血细胞综合征(hemophagocytic syndrome,HPS)的病因及临床特点。回顾性分析38例HPS患者的临床资料,并且对家族性噬血细胞性淋巴组织细胞增多病(familial hemophagocytic lymphohistiocytosis,FHL)发病相关的穿孔素(prf1)和stx11基因外显子编码区片段进行突变筛查。结果表明:38例HPS病例中1例(2.63%)确诊为FHL,与感染性疾病相关14例(36.84%),与肿瘤相关10例(26.32%),与风湿免疫系统疾病相关7例(18.42%),病因不明6例(15.79%)。38例HPS患者中死亡9例,死亡率为23.68%,其中感染相关HPS患者4例死亡;肿瘤相关HPS患者2例死亡;风湿免疫相关HPS患者1例死亡;病因不明患者2例死亡。1例HPS患者发现穿孔素基因(prf1)突变,最终确诊为FHL。结论:HPS不是一种单一病因的疾病,原发疾病不同其转归各异。临床诊断HPS时必须重视原发疾病和病因学检查。穿孔素基因(prf1)及stx11基因外显子编码区片段突变检测对于FHL确诊具有重要作用。

The study was aimed to investigate the etiology and the clinical characteristics of patients with hemophagocytic syndrome.The clinical data of 38 patients with hemophagocytic syndrome were retrospectively analyzed,and prf1 and stx11 were detected for the mutational analysis.The results showed that 38 cases were diagnosed as hemophagocytic syndrome,including 1 case of familial hemophagocytic lymphohistiocytosis（FHL）,14 cases associated with infectious disease（36.84%）,10 cases with malignancies（26.32%）,7 cases with rheumatic disease（18.42%）,other 6 cases of unknown etiology（15.79%）.9 out of 38 cases died with mortality of 23.68%,including 4 cases associated with infectious disease,2 cases with malignancies,1 case with rheumatic disease,and 2 cases of unknown etiology.One case was found to have prf1 mutation,and was diagnosed as FHL at last.It is concluded that the causes of HPS are diverse,different etiology resultes in different outcome.It is important to find etiology when HPS is diagnosed,and prf1 and stx11 genetic analysis plays a important role in the diagnosis of FHL.