Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal disorder of hematopoietic stem cells induced by PIG-A gene mutations. It is clinically manifested by hemolysis, bone marrow failure, and high-risk concurrent thrombosis, which are life-threatening in severe cases. Significant progress has been made in the pathogenesis research and clinical diagnosis and treatment of PNH in recent years. The Red Blood Cell Disease (Anemia) Group Chinese Society of Hematology, Chinese Medical Association, combined with the latest diagnosis and treatment progress of PNH, relevant foreign guidelines/consensus, and China's national conditions, jointly formulated the "Guidelines for the diagnosis and management of paroxysmal nocturnal hemoglobinuria (2024) " based on extensive solicitation of expert suggestions and opinions. This article discussed the key and difficult issues in PNH diagnosis and treatment, interpreted the updated part of the guidelines, and expanded the relevant recommendations of the guidelines according to the latest research progress at home and abroad, thereby providing more references for clinical practice.
阵发性睡眠性血红蛋白尿症（Paroxysmal nocturnal hemoglobinuria，PNH）是一种罕见的后天获得性PIG-A基因突变所致的造血干细胞克隆性疾病，临床主要表现为溶血、骨髓衰竭和高风险并发血栓等，严重时可危及生命。近年来，PNH的发病机制研究及临床诊疗均取得较大进展，中华医学会血液学分会红细胞疾病（贫血）学组在广泛征集专家建议和意见的基础上，结合PNH最新诊治进展、国外相关指南/共识及我国国情共同制订了《阵发性睡眠性血红蛋白尿症诊断与治疗中国指南（2024年版）》。本文将针对PNH诊疗过程中的重点及难点问题进行讨论，对指南的更新部分进行解读，同时结合国内外最新研究进展对指南相关推荐进行拓展，为临床实践提供更多参考。.