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Paroxysmal nocturnal hemoglobinuria: from physiopathology to treatment. Unitermos: Resultado de tratamento. Paroxysmal nocturnal hemoglobinuria PNH is a rare disorder, an acquired chronic hemolytic anemia, often associated with recurrent nocturnal exacerbations, recurrent infections, neutropenia, thrombocytopenia, and episodes of venous thrombosis. Its clinical course is highly variable.
It frequently arises in association with bone marrow failure, particularly aplastic anemia and myelodysplastic syndrome. It is also an acquired thrombophilia, presenting with a variety of venous thrombosis, mainly manifested with intra-abdominal thrombosis, here the major cause of mortality.
The triad of hemolytic anemia, pancytopenia, and thrombosis makes a truly unique clinical syndrome of PNH, which was reclassified from a purely acquired hemolytic anemia to a hematopoietic stem cell mutation defect of the phosphatidyl inositol glycanclass-A gene. This mutation results in an early block in the synthesis of glycosylphosphatidylinositol GPI anchors, responsible for binding membrane functional proteins. Among these proteins are the complement inhibitors, especially CD55 and CD59, that play a key role in protecting blood cells from complement cascade attack.
Therefore, in PNH occurs an increased susceptibility of red cells to complement, and consequently, hemolysis. We here review PNH physiopathology, clinical course, and treatment options, especially eculizumab, a humanized monoclonal antibody that blocks the activation of terminal complement at C5 and prevents formation of the terminal complement complex, the first effective drug therapy for PNH. Key words: Paroxysmal nocturnal hemoglobinuria.
Treatment outcome. Clinical symptoms. Estudos in vitro sugerem ainda que o complemento terminal possa ativar diretamente as plaquetas de pacientes com HPN 2. Em ele foi expandido e atualizado, somando pacientes, com mediana do tempo de acompanhamento de sete anos Eculizumab foi administrado por 52 semanas utilizando-se as doses descritas acima.
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