Využitie prietokovej cytometrie pri diagnostike a monitorovaní paroxyzmálnej nočnej hemoglobinúrie // SOLEN

Vaskulárna medicína 1/2025

Utility of flow cytometry in diagnostics and monitoring of paroxyzmal nocturnal hemoglobinuria

Paroxyzmal nocturnal hemoglobinuria (PNH) is rare acquired clonal disease at the level of hematopoietic stem cell caused by somatic mutation in PIGA gene, responsible for synthesis of glycosylphophatidylinositol (GPI) anchor. Therefore GPI-anchored proteins are absent on the surface of blood cells. Absent or decreased expression of GPI-anchored proteins CD55 a CD59 on surface of erythrocytes leads to an uncotrolled actiovation of complement leading to hemolysis and other PNH symptoms. Flow cytometry testing for PNH is a gold standard in PNH diagnostics nowadays. The role of flow cytometry in PNH testing is to detect and quantify GPI-deficient blood cells and the technique is sentitive enough to detect even very small PNH clones present in patient with other bone marrow disorder. Inhibitors of proximal and terminal complenent which are available for treatment of patients with PNH are capable of protecting patients from hemolysis and its consequences. This aticle provides current insight on utility of flow cytometry in diagnostics and monitoring of PNH.

Keywords: hemolysis, complement, flow cytometry, GPI-anchor, PNH