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2021, Número 2

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Rev Cubana Hematol Inmunol Hemoter 2021; 37 (2)


Enfermedad granulomatosa crónica: fisiopatología genética y molecular. Pruebas diagnósticas vigentes

Hernández RE, Marsán SV

Idioma: Español
Referencias bibliográficas: 50
Paginas: 1-17
Archivo PDF: 342.26 Kb.


RESUMEN

Introducción: La enfermedad granulomatosa crónica es una inmunodeficiencia primaria congénita del sistema inmune innato, originada por defectos en el complejo enzimático nicotinamida adenina dinucleótido fosfato oxidasa presente en células fagocíticas. Estos defectos funcionales causan incapacidad para producir especies reactivas del oxígeno en los fagocitos, que afectan la eliminación de algunos microorganismos patógenos dentro del fagolisosoma. El diagnóstico de esta enfermedad se realiza actualmente mediante la prueba de 1,2,3-dihidrorodamina asistida por citometría de flujo multiparamétrica, o la tinción de fagocitos con nitroazul de tetrazolio asistida por microscopio óptico.
Objetivos: Describir los aspectos fisiopatológicos y moleculares de la enfermedad granulomatosa crónica; y discutir aspectos relacionados con las pruebas de diagnóstico antes mencionadas.
Métodos: Se realizó una investigación bibliográfica-documental a partir de artículos científicos publicados desde 1933 hasta 2018, para ello fueron consultadas las bases de datos SciELO, PubMed y Springer.
Desarrollo: Se exponen las características fisiopatológicas de la enfermedad granulomatosa crónica, así como la relación entre las mutaciones genéticas más abundantes en la población afectada y la gravedad de las manifestaciones clínicas que presentan los pacientes. Además, se analizan críticamente los beneficios y las deficiencias de dos técnicas que se utilizan actualmente para diagnosticar la enfermedad.
Conclusiones: La enfermedad granulomatosa crónica puede generar consecuencias inmunológicas e inflamatorias graves, que se hallan en consonancia con las características genéticas expresadas en el complejo enzimático dañado. El diagnóstico de la enfermedad resulta más confiable, exhaustivo y específico, mediante la citometría de flujo y su prueba de 1,2,3-dihidrorodamina.


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