阵发性睡眠性血红蛋白尿补体抑制剂治疗与管理专家共识  

Consensus on Complement Inhibitor Therapy and Management of Paroxysmal Nocturnal Hemoglobinuria

作　　者：中华医学会血液学分会红细胞疾病(贫血)学组 韩冰[2] 张连生[3] 张抒扬[4] Red Blood Cell Disease(Anemia)Group,Chinese Society of Hematology,Chinese Medical Association;HAN Bing;ZHANG Liansheng;ZHANG Shuyang(不详;Department of Hematology,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Hematology,the Second Hospital of Lanzhou University,Lanzhou 730030,China;Department of Cardiology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)

机构地区：[1]不详 [2]中国医学科学院北京协和医院血液科,北京100730 [3]兰州大学第二医院血液科,兰州730030 [4]中国医学科学院北京协和医院心内科,北京100730

出　　处：《罕见病研究》2025年第1期83-95,共13页Journal of Rare Diseases

基　　金：国家自然科学基金(82370121);北京市自然科学基金(7232109);中国医学科学院临床与转化医学研究专项(2023-12M-C&T-B-013);中国医学科学院医学与健康科技创新工程(2021-I2M-1-003);中央高水平医院临床科研业务费(2022-PUMCH-C-026,2022-PUMCH-D-002,2022-PUMCH-B-046)。

摘　　要：阵发性睡眠性血红蛋白尿(PNH)是一种罕见的造血干细胞克隆性疾病,由于基因突变导致糖基磷脂酰肌醇(GPI)锚连蛋白的丢失,造成红细胞表面的补体调节蛋白的丢失,特别是CD55(衰变加速因子)和CD59(膜攻击复合物抑制因子),使PNH红细胞被补体攻击而破坏,造成血管内溶血(IVH)、血栓形成及平滑肌功能障碍等一系列与溶血相关的症状,严重影响患者的生活质量,甚至导致死亡。传统治疗方案无法解决补体系统被异常激活的级联反应,造血干细胞移植(HSCT)曾经是PNH治愈的唯一途径。靶向补体成分的补体抑制剂可阻断补体级联反应通路,有效控制PNH的溶血及相关症状,已成为治疗溶血性PNH的一线疗法。近年来,全球多款补体抑制剂相继获批和在中国上市,更多中国患者接受了补体抑制剂治疗。本共识旨在规范和指导不同补体抑制剂在PNH领域的临床应用。Paroxysmal nocturnal hemoglobinuria(PNH),a rare clonal disease of hematopoietic stem cells caused by mutations in the phosphatidylinositol N-acetylglucosaminyltransferase subunit A(PIGA)gene,may lead to the deficiency of glycosylated phosphatidylinositol(GPI)-anchored proteins.This deficiency further results in the red blood cells of PNH patients becoming more susceptible to complement-mediated attack,thus triggering a range of hemolysis-related symptoms including intravascular hemolysis(IVH),thrombosis,and smooth muscle dysfunction,which severely compromises patients′quality of life and may even lead to death.Traditional therapeutic approaches have been ineffective in addressing the cascade reactions initiated by abnormal activation of the complement system;therefore,hematopoietic stem cell transplantation(HSCT)was once regarded as the sole cure for PNH.However,with the advent of complement inhibitors targeting complement components,which can block the complement cascade pathway and effectively control hemolysis and related symptoms,these drugs have emerged as the first-line therapy for hemolytic PNH.In recent years,multiple complement inhibitors have been approved globally and launched in China,enabling a growing number of Chinese patients to receive treatment with these agents.This consensus aims to standardize and guide the clinical application of various complement inhibitors in the field of PNH.

关 键 词：阵发性睡眠性血红蛋白尿 血管内溶血 血管外溶血 近端补体抑制剂 远端补体抑制剂 共识 

分 类 号：R551.3[医药卫生—血液循环系统疾病]