Cribado neonatal de fibrosis quística

Tellería Orriols, J.J.; Alonso Ramos, M.J.; Garrote Adrados, J.A.; Fernández Carvajal, I.; Blanco Quirós, A.

doi:10.1016/S1695-4033(02)77894-6

Article information

Objetivo

Analizar la eficacia del método utilizado para el cribadoneonatal de fibrosis quística en Castilla y León, realizadocon muestras de sangre impregnadas en papel absorbente.

Material y métodos

Se estudiaron 36.086 recién nacidos desde enero de1999 a junio de 2001 mediante cuantificación de tripsinógenoinmunorreactivo (TIR). Cuando los valores fueronsuperiores a 60 ng/ml se buscaron mutaciones en el genCFTR con una cobertura del 87,5% de los alelos mutantesen nuestra población. Se solicitó estudio mediante test delsudor en todos los niños en los que se encontró una mutación.

Resultados

Se detectaron valores de TIR > 60 ng/ml en 285 niños(0,79%), se diagnosticó fibrosis quística en 8/285 (2,8%)y en otros 11/285 (3,9%) se encontró una mutación, contest de sudor negativo, por lo que se consideraron portadoressanos. Hasta la actualidad no se tiene noticia de laaparición de ningún falso negativo.

Conclusiones

El método de cribado en dos fases utilizado cumple loscriterios exigibles con una sensibilidad del 98,5%. El modelogeneral del estudio puede utilizarse en otras comunidades,aunque el rastreo de mutaciones deberá ser optimizadorealizando programas piloto que identifiquen elespectro local de mutaciones de fibrosis quística.

Palabras clave:

CFTR

Cribado neonatal

Fibrosis quística

Mutaciones genéticas

Recién nacido

Tripsinógeno inmunorreactivo

Objective

To analyze the efficiency of the method of neonatalscreening for cystic fibrosis (CF) used in Castille and Leon(Spain), which is carried out with blood from Guthriespots.

Material and methods

A total of 36,086 newborns were studied from January1999 to June 2001. Immunoreactive trypsinogen (IRT) wasquantified in all samples and genetic study covering 87.5%of mutations in the CFTR gene was carried out when IRTlevels were > 60 ng/mL. The sweat test was performed inall children in whom at least one mutation was detected.

Results

IRT values of>60 ng/mL were found in 285 children(0.79%). Of these, eight children (2.8%) were diagnosedwith CF and a further 11 children (3.9%) with a negativesweat test were found to have one mutation and were thusclassified as healthy carriers. To date, no false negativeshave been detected.

Conclusions

The two-stage screening method fulfills the required criteria.Its sensitivity is 98.5% and the basic model can beused in other regions although genetic screening shouldbe optimized by pilot programs to identify the local spectrumof CFTR mutations.

Key words:

CFTR

Neonatal screening

Cystic fibrosis

Genetic mutations

Newborn

Immunoreactive trypsinogen

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El programa de cribado neonatal de fibrosis quística está financiado por la Consejería de Sanidady Bienestar Social de la Junta de Castilla y León.

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