Diagnóstico citogenético de AF en una cohorte de pacientes con características clínicas de sospecha de anemia de Fanconi
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Antecedentes: la Anemia de Fanconi (AF) es una enfermedad heredada, que afecta la reparación del ADN. Clínicamente es heterogénea; mayoritariamente se presentan malformaciones congénitas, aplasia medular temprana y predisposición a cáncer. El defecto genético causa hipersensibilidad a genotóxicos e inestabilidad cromosómica. Esta característica se considera el mejor marcador diagnóstico; sin embargo, llegar a él puede convertirse en un desafío. Objetivo: caracterizar pacientes con AF mediante pruebas citogenéticas en individuos con rasgos clínicos sugestivos de la enfermedad. Métodos: se analizaron 157 individuos con sospecha clínica de AF, 19 con asociación VACTERL, 15 hermanos, y 34 individuos sanos. Se realizó registro de datos clínicos, y prueba citogenética con Diepoxibutano (DEB). Resultados: se identificaron 43 afectados por AF. La relación de índices en células tratadas con DEB del grupo AF vs. No-AF fue significativamente incrementada, 6.7 veces la proporción de células aberrantes, 48 veces el número de roturas por célula, y 6.3 veces el número de roturas por célula aberrante. En AF la edad media de muestreo fue 9.2 años, la proporción de sexos M:F 1.5:1, consanguinidad en 11 casos. Los sistemas hematológico, esquelético, tegumentario, y urinario estuvieron significativamente alterados. Conclusiones: La AF se identificó en 26 % del grupo de sospecha y en 13 % de hermanos sin sospecha previa. La enfermedad hematológica fue el síntoma más recurrente presente en 93 % de los casos, y fue principalmente la primera sospecha de AF y motivo de estudio genético.
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