阵发性睡眠性血红蛋白尿症克隆筛查及补体抑制剂治疗监测中国专家共识(2024年版)

Expert consensus on clonal screening and monitoring of complement inhibitor therapy in paroxysmal nocturnalhemoglobinuria(2024)

阵发性睡眠性血红蛋白尿症(paroxysmal nocturnal hemoglobinuria,PNH)是一种罕见的造血干细胞异常克隆性疾病,以血管内溶血性贫血、血栓形成和外周血细胞减少为主要表现,呈慢性进展性病程,严重者可危及生命。补体抑制剂是治疗PNH溶血相关症状的一线推荐药物。随着补体抑制剂领域的快速发展,加强对PNH的筛查、快速诊断,判断需要用补体抑制剂治疗的患者,在补体抑制剂治疗过程中监测突破性溶血、血管外溶血等,对患者的生存、生活质量改善有着重要意义。为促进PNH临床诊疗的规范,本共识参考国内外最新指南和文献,荟萃国内外最新研究成果,并结合专家团队经验,聚焦PNH筛查原则、PNH克隆检测意义、末端C5补体抑制剂治疗后监测等问题,旨在为PNH的筛查、诊断和补体抑制剂时代的治疗监测提供参考意见。

Paroxysmal nocturnal hemoglobinuria(PNH)is a rare clonal disease with abnormal hematopoietic stem cells that causes intravascular hemolytic anemia,thrombosis,and peripheral blood cytopenia.It has a chronic progressive course and can be fatal in severe cases if not treated aggressively.Complement inhibitors are the first-line recommended treatment for hemolysis-related symptoms of PNH.With the rapid development of new complement inhibitors,it is critical to quickly screen and confirm the diagnosis,identify patients with complement inhibitor indications,and monitor breakthrough hemolysis and extravascular hemolysis during complement inhibitor therapy.Drawing on the most recent guidelines,works of literature,and meta-reviews from around the world,as well as combining with experience from the experts,this consensus focused on PNH screening principles,the significance of PNH cloning detection,and post-treatment monitoring of terminal complement inhibitors,which may contribute to a better understanding of diagnosis and treatment monitoring in the era of complement inhibitors.