从北京协和医院百年历史看阵发性睡眠性血红蛋白尿症诊治发展历程  

Centennial development of paroxysmal nocturnal hemoglobinuria research in Peking Union Medical College Hospital

作　　者：庄俊玲[1] 韩冰[1] 陈苗[1] 汪玄[1] 杨辰[1] 王书杰[1] 张薇[1] 段明辉[1] 朱铁楠[1] 李剑[1] 曹欣欣[1] 张路[1] 张炎[1] 冯俊[1] 王为[1] 葛昌文[1] 蒋显勇[1] 李辉[1] 蔡昊[1] 邹农[1] 许莹[1] 赵永强[1] 沈悌[1] 单渊东[1] 潘家绮[1] 武永吉[1] 李蓉生[1] 周道斌[1] ZHUANG JunLing;HAN Bing;CHEN Miao;WANG Xuan;YANG Chen;WANG ShuJie;ZHANG Wei;DUAN MingHui;ZHU TieNan;LI Jian;CAO XinXin;ZHANG Lu;ZHANG Yan;FENG Jun;WANG Wei;GE ChangWen;JIANG XianYong;LI Hui;CAI Hao;ZOU Nong;XU Ying;ZHAO YongQiang;SHEN Ti;SHAN YuanDong;PAN JiaQi;WU YongJi;LI RongSheng;ZHOU DaoBin(Department of Hematology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)

机构地区：[1]中国医学科学院&北京协和医学院,北京协和医院血液科,北京100730

出　　处：《中国科学：生命科学》2021年第8期938-947,共10页Scientia Sinica(Vitae)

摘　　要：阵发性睡眠性血红蛋白尿症(PNH)是一种罕见后天获得的克隆性造血干细胞(HSC)疾病.发病机制为磷脂酰肌醇聚糖A(PIGA)基因突变导致细胞膜上锚连蛋白糖基磷脂酰肌醇(GPI)异常,从而使各种血细胞遭受补体攻击破坏.发作性溶血和慢性贫血是最常见临床表现,也可出现多系血细胞减少为表现的骨髓衰竭.血栓形成是PNH的主要并发症及死亡原因之一.早期治疗仅为输血支持,补体C5单克隆抗体成为经典PNH治疗中的突破性药物,异基因造血干细胞移植是唯一可能治愈PNH的方法.北京协和医院是国内最早报道PNH病例的单位,也是国内不断改进PNH检测方法的领先中心.临床和基础研究团队长期积累,建立了国内最大PNH队列,在探索PNH骨髓衰竭和血栓发生机制等方面成为国内引领.在北京协和医院建院百年之际,本文回顾历史,总结协和及国内血液人在PNH上的临床和研究经验,以期传承老一辈的钻研精神,进一步提高PNH诊治水平.Paroxysmal nocturnal hemoglobinuria(PNH)is a rare acquired clonal hematopoietic stem cell(HSC)disease.A somatic phosphatidylinositol glycan-A(PIGA)gene mutation in HSCs translates into abnormal biosynthesis of glycosyl phosphatidylinositol(GPI)anchors on the cell surface.The absence of GPI-anchored complements regulators leads to complement-driven blood cell lysis.Hemolysis and chronic anemia are the most common clinical manifestations,while bone marrow failure is a rare but life-threatening complication.Thrombosis is the leading cause of mortality.Transfusion and supportive care have been introduced as symptomatic treatments since the early decades of the last century.Eculizumab,a monoclonal antibody that blocks terminal complement at C5,is a breakthrough medicine that changed the standard treatment methods of PNH.However,in cases where eculizumab is not accessible,allogeneic HSC transplantation could be an alternative strategy for refractory and aplastic patients.The Peking Union Medical College Hospital(PUMCH)is approaching its centennial anniversary in 2021.The first case of PNH in China was reported by physicians at PUMCH in the 1950s.During the past century,generations of hematologists established the largest cohort of PNH patients in China while continuously developing novel laboratory tests for this disease.They collaborated with investigators of basic science on the pathogenetic mechanisms of bone marrow failure and thrombosis.Although great historical changes have impacted academic progress,the spirit of perseverance,commitment,and innovation in older generations is passed on to the next generations.In this paper,we summarize the clinical evolution of PNH treatment along with basic science at PUMCH,which in turn facilitates great progress in PNH in the era of the 21st century in China.

关 键 词：阵发性睡眠性血红蛋白尿症 北京协和医院 百年 血液病学 传承 

分 类 号：R556.64[医药卫生—血液循环系统疾病]