Citometría de flujo multiparamétrica para el diagnóstico y monitoreo de poblaciones deficientes en glicosilfosfastidil inositol

Paroxysmal nocturnal hemoglobinuria (PNH) is a low-frequency, severe, non-malignant acquired clonal disease of the haematopoietic stem cell, caused by an erythrocyte membrane anomaly, as a result of a somatic clonal mutation of the phosphatidylinositol glycan class A (PIG-A) gene locatedin  the short arm of the X chromosome. Several complement-regulatory proteins, including Decay Accelerating Factor (CD55) and Membrane Inhibitor of Reactive Lysis (CD59), have been identified as deficient in this pathology. PNH is classified as either classic, in the setting of another bone marrow disorder, or subclinical. The disease is characterized by complement-mediated chronic intravascular haemolysis resulting in anaemia, risk of thrombosis and pancytopenia caused by bone marrow failure. Clinical manifestations vary depending on the clone size and some patients with small PNH clones may not present clinical symptoms. PNH is frequently associated with aplastic anaemia and hypoplastic myelodysplasia. At present, multiparameter flow cytometry, which allows identification and quantification of PNH clones in neutrophils, monocytes and erythrocytes, is the test of choice for the diagnosis and monitoring of PNH treatment. Several consensuses have been reached and diagnostic guides have been published to improve the standardization and sensitivity of this test. Recently, the monoclonal antibody eculizumab has increased life expectancy, improving the quality of life in these patients