阵发性睡眠性血红蛋白尿症多学科诊疗专家共识(2024)

陈苗; 杨辰; 刘紫薇; 曹玮; 张波; 刘鑫; 李景南; 刘炜; 潘杰; 王健; 郑月宏; 陈跃鑫; 李方达; 杜顺达; 宁聪; 陈丽萌; 乐偲; 倪俊; 彭敏; 郭潇潇; 王涛; 李宏军; 李融融; 吴彤; 韩冰; 张抒扬; 北京协和医院罕见病多学科协作组

doi:10.12290/xhyxzz.2024-0416

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)

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

摘要

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。

Abstract: 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.

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