Deficiencia de proteínas de superficie en el diagnóstico de hemoglobinuria paroxística nocturna
Resumen
La hemoglobinuria paroxística nocturna es una enfermedad hematológica adquirida causada por una mutación en el gen PIG-A, que codifica la proteína fosfatidilinositol glicano clase A, conduciendo a la ausencia parcial o completa de las proteínas reguladoras del complemento que están presentes en la membrana del eritrocito, por lo que genera una desregulación del complemento contra la membrana eritrocítica. La hemoglobinuria paroxística nocturna se presenta en 15,9 pacientes por cada millón de personas, afecta de forma similar a ambos sexos, mostrando un leve predominio en las mujeres al estar ligado al cromosoma X, y se manifiesta con hemólisis intravascular, anemia hemolítica, hemoglobinuria, insuficiencia renal, trombosis y otros síntomas inespecíficos que dificultan su diagnóstico temprano. El diagnóstico definitivo se realiza mediante citometría de flujo y el tratamiento incluye inhibidores del complemento como Eculizumab y Ravulizumab. En conclusión, la hemoglobinuria paroxística nocturna resulta un desafío clínico significativo, y sus avances en la investigación sobre su fisiopatología, diagnóstico y tratamiento han mejorado considerablemente el pronóstico y la calidad de vida de los pacientes a largo plazo. Esta revisión de tema tiene como objetivo hacer una búsqueda de la literatura actual disponible sobre la hemoglobinuria paroxística nocturna, haciendo especial énfasis en su diagnóstico mediante la detección de deficiencia en las proteínas de superficie encargadas de la regulación del complemento. Para ello, se realizó una búsqueda en las bases de datos MedLine (PubMed), Clinical Key y Science Direct, sin restricción en tiempo ni idioma.
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Derechos de autor 2024 Susana Mena-Zapata
Esta obra está bajo una licencia internacional Creative Commons Atribución 4.0.
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