产气单胞菌溶素前体变异体技术诊断阵发性睡眠性血红蛋白尿症临床特点总结  

Clinical features of paroxysmal nocturnal hemoglobinuria in FLAER era

作　　者：华海应[1] 李锦[1] 王素丽[2] 沈文怡[2] 朱华渊[2] 龙启强[3] 吴雨洁[2] 高华强[1] 何广胜[2] 李建勇[2] 

机构地区：[1]南通大学附属第三医院血液科,江苏无锡214041 [2]江苏省人民医院南京医科大学第一附属医院血液科,江苏南京210029 [3]东南大学附属第二医院南京市第二医院,江苏南京210003

出　　处：《中国实用内科杂志》2016年第5期389-392,共4页Chinese Journal of Practical Internal Medicine

基　　金：国家科技攻关项目(2014BAI09B12);卫生部科研基金(201202017);江苏省医学重点项目(BL2014086);江苏省普通高校优势学科(JX10231801);南京医科大学第一附属医院创新团队课题;南京市医学科技发展项目(YKK14153)

摘　　要：目的总结以产气单胞菌溶素前体变异体(FLAER)技术诊断的阵发性睡眠性血红蛋白尿症(PNH)患者的临床特点,提高对PNH的认识。方法回顾性分析2011年9月至2015年3月在南通大学第三附属医院血液科和江苏省人民医院血液科经FLAER诊断的98例以流式细胞术FLAER技术诊断的PNH患者资料,对临床表现、实验室检查结果、并发症进行分析归纳。结果通过FLAER技术诊断经典型PNH 43例,PNH合并骨髓疾病45例,亚临床型PNH 10例。70例有疲乏表现,41例以血红蛋白尿为主要表现,6例合并血栓形成(多为非常见部位),17例发生肾功能损害,19例合并肝功能损害,肺动脉高压仅2例。经典型PNH更易发生溶血,PNH合并骨髓疾病者造血功能衰竭特征较明显。增高的乳酸脱氢酶(LDH)值与PNH粒细胞克隆数间存在线性关系,且PNH粒细胞克隆数较高者更易发生血栓。结论 PNH患者以溶血及骨髓衰竭为主要表现,易见肝肾损伤及少见部位血栓,肺动脉高压少见。Objectives To summarize the clinical features of patients with paroxysmal nocturnal hemoglobinuria （PNH） diagnosised by FLAER and to improve the knowledge on PNH. Methods the clinical data of 98 cases diagnosised by FLAER were analyzed retrospectively, including clinical features, laboratory examination results and complications. Results There were 43 cases of classic PNH, 45 of PNH combined with other specific bone marrow disorders and 10 cases of subclinical PNH. Seventy patients were with fatigue and 41 patients with PNH manifested with hemolobinuria. Thrombosis occurred in 6 cases, mostly formed in rare sites. Seventeen cases and 19 cases had renal and liver impairment, respectively. Only 2 cases of PNH suffered from pulmonary hypertension simultaneously. Classic PNH was more susceptible to hemolysis, the bone marrow failure features in patients with PNH combined with other specific bone marrow disorder was markedly obvious. A linear relationship was established between the level of lactate dehydrogenase （LDH） and number of clone PNH. Patients with high PNH clone number were specially prone to thrombosis. Conclusion Patients with PNH mainly manifest with hemolytic anemia and bone marrow failure. Renal and liver impairment and thrombosis in rare sites are relatively common, but pulmonary arterial hypertension is rare.

关 键 词：FLAER 阵发性睡眠性血红蛋白尿症 骨髓衰竭 溶血 并发症 

分 类 号：R552[医药卫生—血液循环系统疾病]