中国实用内科杂志2025，Vol.45Issue(7)：570-575,6.DOI:10.19538/j.nk2025070106
阵发性睡眠性血红蛋白尿症的克隆演变机制
Cloning evolution mechanism of paroxysmal nocturnal hemoglobinuria
摘要
Abstract
The core pathogenesis of paroxysmal nocturnal hemoglobinuria(PNH)is that somatic mutation of PIG-A gene on X chromosome leads to the deletion of glycosyl phosphatidylinositol anchor proteins such as CD55 and CD59,and the vulnerability of red blood cells to complement attack increases,resulting in hemolysis.The dynamic evolution of PNH clone is closely related to immune microenvironment pressure,secondary mutation and treatment intervention,and often interacts with bone marrow failure diseases and myeloid tumors.This paper reviews the pathogenesis,clonal evolution model and clinical significance of PNH,and discusses the role of immune microenvironment,gene mutation and treatment choice in disease progression,so as to provide theoretical basis for optimizing diagnosis and treatment.关键词
阵发性睡眠性血红蛋白尿症/PIG-A基因/克隆演变/免疫逃逸/骨髓衰竭/骨髓增生异常综合征Key words
paroxysmal nocturnal hemoglobinuria/PIG-A gene/clonal evolution/immune escape/bone marrow failure/myelodysplastic syndrome分类
医药卫生引用本文复制引用
周睿卿,王顺清..阵发性睡眠性血红蛋白尿症的克隆演变机制[J].中国实用内科杂志,2025,45(7):570-575,6.基金项目
国家重点研发计划(2023YFA1800100) （2023YFA1800100）
广州市科技计划(2024A03J1021) （2024A03J1021）
