摘要
Paroxysmal nocturnal hemoglobinuria （PNH） is a consequence of nonmalignant clonal expansion of one or several hematopoietic stem cells that have acquired a somatic mutation of phosphatedalinositol glycae-class A （PIGA） gene leading to deficient glycosyl phosphatidylinositol （GPI） synthesis. The pathophysiology of PNH is an abnormality in the glycolipid-anchored proteins of the membranes of blood cells. The absence of complement control proteins, including decay accelerating factor （DAF, CD55） and membrane inhibitor of reactive lysis （MIRL, CD59）, results in intravascular lysis of the abnormal cells. Patients with PNH manifest not only clinical and laboratory signs of chronic hemolytic anemia, but also formation of cytopenia and venous thromboses.
Paroxysmal nocturnal hemoglobinuria （PNH） is a consequence of nonmalignant clonal expansion of one or several hematopoietic stem cells that have acquired a somatic mutation of phosphatedalinositol glycae-class A （PIGA） gene leading to deficient glycosyl phosphatidylinositol （GPI） synthesis. The pathophysiology of PNH is an abnormality in the glycolipid-anchored proteins of the membranes of blood cells. The absence of complement control proteins, including decay accelerating factor （DAF, CD55） and membrane inhibitor of reactive lysis （MIRL, CD59）, results in intravascular lysis of the abnormal cells. Patients with PNH manifest not only clinical and laboratory signs of chronic hemolytic anemia, but also formation of cytopenia and venous thromboses.
