Manifestaciones gastrointestinales inflamatorias e infecciosas de la enfermedad granulomatosa crónica

Autores/as

DOI:

https://doi.org/10.29262/ram.v68i3.860

Palabras clave:

Enfermedad granulomatosa crónica, enfermedad inflamatoria intestinal, granuloma, manifestaciones gastrointestinales, p40phox

Resumen

La enfermedad granulomatosa crónica (EGC) es un error innato de la inmunidad causado por un defecto en uno de los componentes del complejo NADPH oxidasa, responsable de generar especies reactivas de oxígeno (ERO) durante el estallido respiratorio en los fagocitos. La ausencia de ERO producidos por la NADPH oxidasa en los neutrófilos y en los macrófagos produce mayor susceptibilidad a infecciones bacterianas y fúngicas, además de manifestaciones inflamatorias por una respuesta inflamatoria desregulada, lo que sugiere que la capacidad para regular adecuadamente la señalización inflamatoria depende de las ERO derivadas de la NADPH oxidasa. Los pacientes con EGC ligada al cromosoma X tienen un curso de enfermedad más grave con infecciones invasivas recurrentes, a diferencia de los pacientes con EGC no clásica, quienes no presentan infecciones bacterianas o fúngicas invasivas, pero con manifestaciones inflamatorias más prominentes. Las manifestaciones gastrointestinales más frecuentes son estomatitis, gingivitis, diarrea crónica, abscesos hepáticos, similares a las de la enfermedad inflamatoria intestinal (EII) y granulomas, que pueden provocar obstrucción o estenosis en esófago, estómago o intestino. Se ha observado que la deficiencia de p40phox y EROS (EGC no clásica) se asocia a mayor susceptibilidad a colitis y al desarrollo de inflamación severa, por lo que se plantea que estas proteínas participan en la resolución de la inflamación. En general, los hallazgos inflamatorios en la EGC, incluyendo los gastrointestinales, han sido poco descritos. En las cohortes internacionales se reportan manifestaciones similares a EII hasta en 58 % de los pacientes con EGC; en cambio, en la única cohorte mexicana se describe su hallazgo solo en cuatro de 93 pacientes (4.3 %). En esta revisión resumimos los hallazgos clínicos gastrointestinales de la EGC, incluidas las manifestaciones infecciosas e inflamatorias, con énfasis en las últimas.

Biografía del autor/a

Lizbeth Blancas Galicia, Instituto Nacional de Pediatría

La incidencia de la enfermedad granulomatosa crónica (EGC) en reportes internacionales es de 1:250, 000, sin embargo en México se desconoce. En el Instituto Nacional de Pediatría a partir del 2009 se implementó un proyecto para facilitar diagnóstico de dicha enfermedad. De esa fecha al día de hoy se han estudiado 67 casos, de los cuales el 80% son formas ligadas al X (LX), además de que cada vez mas han se diagnosticado los casos a una edad más temprana. Actualmente nos encontramos con un nuevo reto, el tratamiento curativo de los pacientes con EGC. Presentamos el caso de un paciente con EGC-LX trasplantado exitosamente al mes de vida y trasplantado de forma exitosa en México.

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Publicado

2021-10-12

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Artículos de revisión