中国实用内科杂志2025，Vol.45Issue(7)：541-547,553,8.DOI:10.19538/j.nk2025070101
阵发性睡眠性血红蛋白尿症克隆筛查与诊断研究进展
Research progress on PNH clone screening and diagnosis
摘要
Abstract
Paroxysmal nocturnal hemoglobinuria(PNH)is a rare acquired clonal disease of hematopoietic stem cells,clinically characterized by intravascular hemolysis,bone marrow failure,and high-risk concurrent thrombosis.Although it is a benign intravascular hemolytic disease,severe cases can be life-threatening.PNH has diverse clinical manifestations,complex symptoms,and is prone to multiple complications,often resulting in delayed diagnosis,misdiagnosis,and missed diagnosis.The classic complement hemolysis test lacks sensitivity and specificity for the diagnosis of PNH.The application of high-sensitivity flow cytometry has made breakthrough progress in the screening and diagnosis of PNH clones.The article provides a review of the current status and prospects of PNH,clone screening,and clinical application of flow cytometry.关键词
阵发性睡眠性血红蛋白尿/克隆筛查/诊断/流式细胞术Key words
paroxysmal nocturnal hemoglobinuria/clone screening/diagnosis/flow cytometry分类
医药卫生引用本文复制引用
李丽燕,付蓉..阵发性睡眠性血红蛋白尿症克隆筛查与诊断研究进展[J].中国实用内科杂志,2025,45(7):541-547,553,8.基金项目
国家自然科学基金面上项目(82270142) （82270142）
天津市公共卫生科技重大专项重点项目(24ZXGZSY00090) （24ZXGZSY00090）
天津市重点实验室创新能力建设项目(24ZGSSSS00050) （24ZGSSSS00050）
天津市卫生健康科技项目(TJWJ2023XK003) （TJWJ2023XK003）
科技部重点研发计划项目(2024YFC2510504) （2024YFC2510504）
