Falsos positivos en cribado neonatal: elevación de C5-carnitina en neonatos por tratamiento preparto con cefditoreno pivoxilo

• Autores: Miguel L. Fernández Ruano, Beatriz Besga García, Almudena Montero Plata, Elena Dulín Iñiguez
• Localización: Revista española de salud pública, ISSN 1135-5727, ISSN-e 2173-9110, Nº. 92, 2018
• Idioma: español
• Títulos paralelos:
  • C5-carnitin increase in newborns due to pre-labour treatment with cefditoren pivoxil
• Enlaces
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• Resumen
  • español

    RESUMEN El aumento de C5-carnitina (C5) cuantificada mediante espectrometría de masas en tándem permite la detección precoz de la acidemia isovalérica (IVA) en neonatos. La administración de profármacos como el cefditoreno pivoxilo (CFP), formados por ésteres de ácido piválico también provoca elevaciones de C5 en sangre. En este trabajo se presenta la experiencia del Laboratorio de Cribado Neonatal de la Comunidad de Madrid en el cribado neonatal de IVA. Se han analizado 418.863 niños y no se ha detectado ningún caso de IVA, pero sí 18 casos de elevación de C5 en recién nacidos de madres tratadas con CFP antes del parto. Las concentraciones de C5 obtenidas en estos casos fueron comparables a las de casos diagnosticados de IVA en otros países. También estudiamos la concentración de C5 en la sangre de una paciente tratada con CFP, en la que observamos una elevación de dicha concentración que se normalizó al finalizar el tratamiento. El CFP es un antibiótico que se prescribe a mujeres gestantes en España y puede dar lugar a elevaciones de C5 en sangre que induzcan a sospechar un caso de IVA, provocando alarma en la familia del niño y obligando a hacer un seguimiento del caso.

  • English

    ABSTRACT The increase in C5-carnitin (C5) quantified by tandem mass spectrometry allows for early detection of isovaleric acidemia (IVA) in newborns. The administration of prodrugs like cefditoren pivoxil (CFP) composed by pivalic acid esters also causes increases of C5 in blood. This work shows the experience of the Laboratorio de Cribado Neonatal of the Comunidad de Madrid in the newborn screening for IVA. 418.863 newborns have been analyzed and no cases of IVA have been detected, but there were 18 cases of increase of C5 in newborns from mothers treated with CFP before labour. The concentrations of C5 obtained in these cases were comparable to those from cases diagnosed of IVA in other countries. We also studied the concentration of C5 the blood of a patient who was treated with CFP, in whom we observed an elevation which was restored after treatment was finished. CFP is an antibiotic prescribed to pregnant women in Spain and can cause elevation of C5 in blood that can induce to suspect a case of IVA, causing alarm in the newborn family and forcing to a follow-up.

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