Citometría de flujo en el diagnóstico y monitorización de pacientes con hemoglobinuria paroxística nocturna
Flow cytometry in the diagnosis and monitoring of patients with paroxysmal nocturnal hemoglobinuria
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Introducción: Hemoglobinuria Paroxística Nocturna (HPN) es una enfermedad clonal de las células madre hematopoyéticas, caracterizada por hemólisis intravascular, episodios trombóticos, riesgo de falla medular y daño a órganos como riñón y pulmón. Las mutaciones en el gen PIGA causan deficiencia de proteínas ancladas a glicosidil fosfatidilinositol (GPI) aumentando la susceptibilidad celular a la lisis mediada por complemento. Dada su presentación clínica variable, el diagnóstico temprano y la monitorización continua con citometría de flujo (CF), son cruciales para un manejo eficaz. Objetivo: Describir la aplicación de la CF en el diagnóstico y seguimiento de pacientes con HPN, destacando su utilidad, beneficios y limitaciones. Métodos: Se realizó una revisión de la literatura en bases de datos como PubMed, Embase, Scopus, Web of Science y Google Scholar de estudios publicados entre enero de 2000 y julio de 2024. Se incluyeron estudios en humanos que describieran el uso de la CF en el diagnóstico y monitoreo de HPN. Resultados: Se eligieron 40 estudios. La CF tiene alta sensibilidad y especificidad (>95%) para detectar células deficientes en GPI utilizando marcadores como CD55 y CD59. La CF fue efectiva para cuantificar la carga clonal, monitorizar la respuesta al tratamiento con anti-C5 y detectar complicaciones como trombosis y síndromes mielodisplásicos. Técnicas avanzadas de CF permitieron identificar clones en niveles bajos (<0.1%), facilitando intervenciones clínicas oportunas. Conclusiones: La citometría de flujo apoya el diagnóstico y seguimiento de la HPN, mejorando la gestión de la enfermedad y optimizando el tratamiento.
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