Actualización del cribado neonatal ampliado en Canariasnuevas enfermedades y perspectivas futuras
- Eduardo Valerio Hernández
- Alejandra González Delgado
- Carmen Rosa Rodríguez Fernández-Oliva
- Mercedes Murray Hurtado
- Luis Peña Quintana
- Mónica Ruiz Pons
ISSN: 1131-6128
Année de publication: 2022
Volumen: 46
Número: 1
Pages: 92-104
Type: Article
D'autres publications dans: Canarias Pediátrica
Résumé
Expanded Newborn Screening (NBS) in the Canary Islands includes 8 diseases: PKU, AG-1, MCAD and LCHAD, cystic fibrosis, congenital hypothyroidism, sickle cell anemia, and biotinidase deficiency. Despite this, there is a wide space for improvement, with the possibility of increasing the number of diseases screened by tandem mass spectrometry (MS/MS) to more than 20, without increasing cost, having broader metabolic profiles and obtaining the results in a timely manner. Training and knowledge about the diseases screened by paediatrics, and medicine in general, is usually low, despite the fact that the actions and consequences of these on these patients, in certain diseases, are very important. The objectives of this article are to present the expansion of neonatal screening, the reference values and an introduction to the metabolic diseases screened for and their management, mainly from the point of view of the primary care pediatrician, covering any possible doubts that may arise.