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Resumen Abstract
La HPN es una enfermedad clonal adquirida, causada por Paroxysmal Nocturnal Hemoglobinuria (PNH ) is an ac-
una mutacin somtica en el gen PIG-A, que se encuentra quired clonal disease caused by the somatic mutation of
en el cromosoma X al final del brazo corto (Xp22.1). Este the PIG-A gene, located at the end of the short arm of
gen codifica una protena involucrada en la sntesis del the X chromosome (Xp22.1) which encodes a protein in-
Glicosilfosfatidilinositol (GPI). Este es un glicolpido que volved in the synthesis of the glycosylphosphatidylinositol
ancla muchas protenas a la superficie de la membrana (GPI) that anchors many proteins to the cellular mem-
celular. La mutacin ocurre en la clula precursora he- brane surface. This mutation occurs in a hematopoietic
matopoytica dando lugar a la deficiencia parcial o total stem cell generating a partial or total deficiency of the
de la protena PIG-A con la consecuente alteracin en la PIG-A protein affecting consequently the synthesis of the
sntesis del GPI de anclaje. GPI anchor.
El resultado de la prdida de estas protenas de la super- The result of the loss of these proteins from the cellular
ficie celular es un aumento de la sensibilidad a la destruc- membrane surface is the increase sensibility for comple-
cin celular mediada por el complemento. ment mediated lysis. PNH is characterized by chronic in-
La HPN est caracterizada por anemia hemoltica crnica travascular haemolysis, hemoglobinuria, cytopenias due
intravascular, hemoglobinuria, citopenias debido al fallo to bone marrow failure, thrombosis and eventually leuke-
de la mdula sea, trombosis y raramente transformacin mic transformation.
leucmica. The mutated hematopoietic stem cell expansion is respon-
La expansin de la progenie de la clula precursora por- sible for the clinical manifestations of this disease that is
tadora de esta mutacin es la responsable de las mani- not nocturnal -haemolysis is constant- and not always
festaciones de esta enfermedad que no es nocturna la has hemoglobinuria.
hemlisis es constante y no siempre se presenta con He-
moglobinuria.
Bibliografa
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