阵发性睡眠性血红蛋白尿克隆扩增机制的研究进展  

The Progression of Study on the Pathogenesis of PNH Clone Extension

作　　者：王树叶[1] 杨喜晶[1] 周晋[1] 

机构地区：[1]哈尔滨医科大学附属第一医院血液内科,150001

出　　处：《国际遗传学杂志》2009年第5期380-384,共5页International Journal of Genetics

基　　金：黑龙江省教育厅科技研究项目（11521087）

摘　　要：阵发性睡眠性血红蛋白尿是一种溶血性疾病，以GPI—AP缺陷的异常造血细胞的出现为特征。临床表现是以与睡眠有关的、间歇发作性的血红蛋白尿为特征，可伴有全血细胞减少和反复血栓形成，其常见的并发症是感染、下肢静脉血栓塞，部分患者转化为骨髓增生异常综合征、急性白血病。近年来研究证实本病是造血干细胞PIG—A基因突变所致的克隆病。本文参阅近几年的文献，对阵发性睡眠性血红蛋白尿克隆扩增机制的研究现况作一综述。Paroxysmal nocturnal hemoglobinuria （PNH） is an acquired hemolytic anemia that often manifests with a deficiency of glycosylphosphatidylinositol anchored proteins （GPI-AP） on the surface of the abnormal hematopoietic stem cells. The clinical manifestations of PNH are characterized by paroxysmal hemoglobinuria related to somnus, probably accompanied with the decreasing of the whole blood cells and iterative thrombosis. Usually, the complications of PNH are myelodysplastie syndrome and acute leukemia. Some researches confirm that the disease results from the expansion of hematopoietic stem cells harboring a mutation in PIG- A gene. Based on recent literatures, the pathogenesis of PNH clone extension are summarized in this review.

关 键 词：阵发性睡眠性血红蛋白尿 PIG—A基因突变 PNH克隆 

分 类 号：R556.64[医药卫生—血液循环系统疾病] R684.3[医药卫生—内科学]