발작성 야간혈색소뇨증 1예

Abstract

Paroxysmal nocturnal hemoglobinuria(PNH) is an acquired clonal disease of the hematopoietic stem cell characterized by increased sensitivity of the affected cells to complement mediated lysis. In 1937, Thomas Hale Ham proved when incubated in acidified serum, the erythrocyte of PNH are hemolyzed through activation of the alternative pathway of complement but normal erythrocytes are resistant to this reaction , which thereafter has been applied to the diagnosis of PNH. The most distinctive feature of PNH is an intrinsic erythrocyte abnormality and reduces the life span of the erythrocyte, in this respect the disorder resembles many other hemolytic anemias. But whereas most of hemolytic anemia is hereditary, PNH is acquired not family disease and nearly always coexist with a population of normal red cells. Ross & Dacie demonstrated that PNH erythrocytes generally consist of two populations, which are respectively sensitive(PNH Ⅲ or Ⅱ) or insensitive (PNH I) to complement in the complement lysis sensitivity tes t. The proportion of PNH m erythrocyte varies from patient to patient and is very closely releated to the intensity and frequency of hemoglobinuria. The complication of PNH case is very diverse such as hemolysis, bone marrow hypoplasia, thrombosis, hemorrhage aI)d infection, and the patient lives 5 to 10 more years after the diagnosis but some lives more than tha t. PNH is presumed to break out due to lack or reduction of DAF, MIRL on the PNH cell membrane which is GPI anchor protein resulted from the defect at GPI anchor by somatic mutation.