阵发性睡眠性血红蛋白尿症多学科诊疗专家共识(2024)  

Expert Consensus of Multidisciplinary Diagnosis and Treatment for Paroxysmal Nocturnal Hemoglobinuria(2024)

作　　者：陈苗[1] 杨辰[1] 刘紫薇 曹玮[2] 张波[3] 刘鑫[3] 李景南[4] 刘炜[5] 潘杰 王健[6] 郑月宏[7] 陈跃鑫[7] 李方达[7] 杜顺达 宁聪 陈丽萌[9] 乐偲[9] 倪俊[10] 彭敏[11] 郭潇潇[12] 王涛[13] 李宏军[14] 李融融[15] 吴彤 韩冰[1] 张抒扬[12] 北京协和医院罕见病多学科协作组 CHEN Miao;YANG Chen;LIU Ziwei;CAO Wei;ZHANG Bo;LIU Xin;LI Jingnan;LIU Wei;PAN Jie;WANG Jian;ZHENG Yuehong;CHEN Yuexin;LI Fangda;DU Shunda;NING Cong;CHEN Limeng;YUE Cai;NI Jun;PENG Min;GUO Xiaoxiao;WANG Tao;LI Hongjun;LI Rongrong;WU Tong;HAN Bing;ZHANG Shuyang;Multidiscipline Collaboration Group on Rare Disease at Peking Union Medical College Hospital(Department of Hematology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Infectious Diseases,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Pharmacy,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Gastroenterology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Radiology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Radiointervention,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Vascular Surgery,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Liver Surgery,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Nephrology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Neurology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Respiratory and Critical Medicine,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Depart

机构地区：[1]中国医学科学院北京协和医院血液内科,北京100730 [2]中国医学科学院北京协和医院感染内科,北京100730 [3]中国医学科学院北京协和医院药剂科,北京100730 [4]中国医学科学院北京协和医院消化内科,北京100730 [5]中国医学科学院北京协和医院放射科,北京100730 [6]中国医学科学院北京协和医院放射介入组,北京100730 [7]中国医学科学院北京协和医院血管外科,北京100730 [8]中国医学科学院北京协和医院肝脏外科,北京100730 [9]中国医学科学院北京协和医院肾内科,北京100730 [10]中国医学科学院北京协和医院神经科,北京100730 [11]中国医学科学院北京协和医院呼吸与危重症医学科,北京100730 [12]中国医学科学院北京协和医院心内科,北京100730 [13]中国医学科学院北京协和医院皮肤科,北京100730 [14]中国医学科学院北京协和医院泌尿外科,北京100730 [15]中国医学科学院北京协和医院营养科,北京100730 [16]北京高博博仁医院造血干细胞移植科,北京100070 [17]不详

出　　处：《协和医学杂志》2024年第5期1011-1028,共18页Medical Journal of Peking Union Medical College Hospital

基　　金：国家重点研发计划(2022YFC2703900,2022YFC2703901);中国医学科学院临床与转化医学研究专项(2023⁃12M⁃C&T⁃B⁃013);国家自然科学基金(82370121);北京市自然科学基金(7232109);中央高水平医院临床科研专项(2022⁃PUMCH⁃D⁃002)。

摘　　要：阵发性睡眠性血红蛋白尿症(paroxysmal nocturnal hemoglobinuria,PNH)是一种由于磷脂酰肌醇聚糖A基因突变引起细胞膜上锚链蛋白糖基磷脂酰肌醇(glycosylphosphatidylinositol,GPI)表达异常所致的后天获得性克隆性造血干细胞疾病,临床常表现为血管内溶血、反复血栓形成及骨髓衰竭,也可出现肾功能异常、肺动脉高压、吞咽困难、胸痛、腹痛、勃起功能障碍等多系统受累的症状。由于PNH为罕见病,且临床表现异质性强,常需进行多学科协作诊疗。北京协和医院依托罕见病诊疗平台,邀请多学科临床专家,在PNH诊疗方面达成了统一意见,并形成《阵发性睡眠性血红蛋白尿症多学科诊疗专家共识(2024)》,以期促进PNH诊疗的标准化、规范化。Paroxysmal nocturnal hemoglobinuria(PNH)is an acquired clonal hematopoietic stem cell disease caused by abnormal expression of glycosylphosphatidylinositol(GPI)on the cell membrane due to mutations in the phosphatidylinositol glycan class A(PIGA)gene.It is commonly characterized by intravascular hemolysis,repeated thrombosis,and bone marrow failure,as well as multiple systemic involvement symptoms such as renal dysfunction,pulmonary hypertension,swallowing difficulties,chest pain,abdominal pain,and erectile dysfunction.Due to the rarity of PNH and its strong heterogeneity in clinical manifestations,multidisciplinary collaboration is often required for diagnosis and treatment.Peking Union Medical College Hospital,relying on the rare disease diagnosis and treatment platform,has invited multidisciplinary clinical experts to form a unified opinion on the diagnosis and treatment of PNH,and formulated the Expert Consensus of Multidisciplinary Diagnosis and Treatment for Paroxysmal Nocturnal Hemoglobinuria(2024),with the hope of promoting the standardization of PNH diagnosis and treatment.

关 键 词：阵发性睡眠性血红蛋白尿症 多学科诊疗 多系统受累 共识 

分 类 号：R556.6[医药卫生—血液循环系统疾病] R571[医药卫生—内科学] R54[医药卫生—临床医学]