噬血细胞综合征病因及发病机制研究进展

噬血细胞综合征 (HPS)是一类由多种不同疾病引起的 ,以高细胞因子血症、噬血细胞大量增生为特征的疾病。HPS包括原发性 (遗传性 )和继发性 (反应性 )两种类型。部分遗传性HPS患者有穿孔素基因突变 ,可能还有其他遗传学异常。继发性HPS病因多样 ,可由感染、恶性病变或未知的潜在疾病激发。近期的研究结果提示 ,HPS的发病与细胞毒活性缺陷、免疫活性细胞凋亡减少密切相关。

Advances in etiology and pathogenesis of hemophagocytic syndrome

Hemophagocytic syndrome (HPS) is a clinicopathologic entity occurs as a consequence of uncontrolled dysregulated cellular immune reactivity caused by a number of different underlying diseases,characterized by hypercytokinemia and systemic proliferation of benign hemophagocytic cells. Hemophagocytic syndrome embraces both primary/inherited HPS and secondary/reactive HPS. Mutations in perforin gene have been identified in some inherited HPS patients,there may be other genetic abnormalities also responsible for the disease. The causes of secondary HPS are diverse,including infections,malignancy and other unknown underlying diseases. A great advance in pathogenesis of HPS has been made and the results of recent research suggest that onset of HPS is closely associated with deficiency in lymphocyte mediated cytotoxicity and lowing apoptosis of activated immune cells.