Primer estudio piloto para el tamizaje neonatal de linfopenias T y B en Colombia
Resumen
Introducción. La detección temprana de linfopenias congénitas facilitaría su tratamiento oportuno y la prevención de complicaciones serias, y optimizaría los recursos del sistema de salud.
Objetivo. Realizar un estudio piloto para el tamizaje neonatal de linfopenias mediante la cuantificación de los círculos de escisión (TREC y KREC) de los receptores de los linfocitos T y B en muestras de sangre periférica de neonatos de Medellín, Colombia.
Materiales y métodos. Se recolectaron muestras de 1.092 neonatos y de seis pacientes con sospecha de linfopenia, mediante pinchazo del talón o del dedo gordo del pie. Se extrajo el ADN y se midieron los niveles de TREC y KREC por qPCR.
Resultados. En los seis pacientes con sospecha de linfopenia se encontraron niveles muy bajos o indetectables de TREC. Todos los neonatos tamizados presentaron niveles normales de TREC y KREC. Se observó concordancia entre los valores de TREC o de KREC en dos tipos diferentes de papel de filtro. Los niveles de TREC y KREC disminuyeron considerablemente después de 24 semanas de almacenamiento de las muestras de sangre en papel de filtro. Se encontró una asociación positiva entre los niveles de los TREC y el peso al nacer, y una correlación negativa entre los KREC y la edad gestacional. Los niveles de estos marcadores no se asociaron con el tipo de parto.
Conclusiones. Se presenta el primer estudio piloto para el tamizaje temprano de linfopenias congénitas en neonatos en Colombia. Se propone el uso de un límite de detección de 119 y 69 copias/μl de sangre de TREC y KREC, respectivamente, para futuros programas de detección neonatal de linfopenias en el país.
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