RESUMO
BACKGROUND AND OBJECTIVE: The early detection of inborn errors of metabolism by mass spectrometry allows expanding the traditional neonatal screening of phenylketonuria and congenital hypothyroidism to test for aminoacidopathies, fatty acid oxidation disorders and organic acid metabolic disorders. Cystic fibrosis and biotinidase deficiency screening is implemented in the Region of Murcia. The aim of the study is to describe our experience in the expanded neonatal screening and to define the prevalence of each of the metabolic disorders early detected. PATIENTS AND METHODS: Since March 2007 until October 2010, a total of 71,595 neonates were screened with this expanded program by mass spectrometry, fluoroimmunoassay or colorimetric methods. RESULTS: Thirty-eight patients (prevalence 1:1,884) were diagnosed of inborn errors of metabolism by mass spectrometry, 13 patients of cystic fibrosis (prevalence 1:5,507), 38 of congenital hypothyroidism (prevalence 1:1,884) and one of biotinidase deficiency. To date, the global frequency of inborn errors of metabolism is estimated to be 1:804. The positive predictive value for the results obtained by mass spectrometry was 20.25%. Two false negative patients were not identified (cystic fibrosis and methylmalonic aciduria patients) and 6 non neonatal patients were detected through expanded neonatal screening. CONCLUSIONS: Our data support the necessity of unifying the set of metabolic diseases to be screened in all Regions of Spain for early detection of a defined panel of inborn errors of metabolism and to provide every newborn the same opportunities to be early diagnosed.
Assuntos
Testes Genéticos , Triagem Neonatal , Acil-CoA Desidrogenase/sangue , Acil-CoA Desidrogenase/deficiência , Erros Inatos do Metabolismo dos Aminoácidos/sangue , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Erros Inatos do Metabolismo dos Aminoácidos/epidemiologia , Deficiência de Biotinidase/sangue , Deficiência de Biotinidase/diagnóstico , Deficiência de Biotinidase/epidemiologia , Colorimetria , Hipotireoidismo Congênito/sangue , Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/epidemiologia , Fibrose Cística/sangue , Fibrose Cística/diagnóstico , Fibrose Cística/epidemiologia , Diagnóstico Precoce , Feminino , Testes Genéticos/métodos , Humanos , Técnicas Imunoenzimáticas , Recém-Nascido , Erros Inatos do Metabolismo Lipídico/sangue , Erros Inatos do Metabolismo Lipídico/diagnóstico , Erros Inatos do Metabolismo Lipídico/epidemiologia , Masculino , Erros Inatos do Metabolismo/sangue , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/epidemiologia , Triagem Neonatal/métodos , Triagem Neonatal/organização & administração , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Espanha/epidemiologia , Espectrometria de Massas em TandemRESUMO
Mutation epidemiology in each ethnic group is important for cystic fibrosis diagnosis and genetic counselling. To date, little has been reported on the prevalence of cystic fibrosis in the Ecuadorian population where the mutation distribution appears to differ from that of Europe. We present a series of four Ecuadorian patients homozygous for the H609R mutation in the CFTR gene. This is the first report of detection of this mutation in the Ecuadorian population. Taking advantage of the homozygous status of the patients, an evaluation of the most important clinical parameters is presented. From the diagnostic point of view, the information provided by our study is of relevance in designing an appropriate strategy for genetic testing of patients in Ecuador and in European countries where immigration from Ecuador is common.