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 mu-tations 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,multidisci-plinary collaboration is often required for diagnosis and treatment.Peking Union Medical College Hospital,rel-ying 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.
关键词
阵发性睡眠性血红蛋白尿症/多学科诊疗/多系统受累/共识
Key words
paroxysmal nocturnal hemoglobinuria/multidisciplinary treatment/multiple system involvement/consensus
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