Hipotiroidismo Congénito: historia e impacto del tamizaje

RESUMOAvaliamos as concentrações do TSH em papel-filtro colhido no calcanhar (TSHneo) de 48.039 crianças triadas do programa de triagem neonatal (PTN) para o hipotireoidismo congênito (HC) de Sergipe, as concentrações de TSH, T4 total e T4 livre colhidas em sangue periférico nas crianças convocadas suspeitas de HC, a idade nas diversas fases do programa, a cobertura e a freqüência do PTN de janeiro de 2005 a agosto de 2006, comparando-as com dados da literatura. Utilizamos para análise os seguintes parâmetros: média, mediana, coeficiente de variação e distribuição de freqüência. A idade da criança por ocasião da coleta em papel filtro no calcanhar foi 10 ± 9 dias (média ± desvio-padrão) e a idade na realização do ensaio do TSHneo foi de 31 ± 13 dias. Em 2005, a cobertura do PTN, para o interior e para a capital de Sergipe, foi de 77% e 73%, respectivamente. Verificamos que em 99,484% das crianças triadas as concentrações do TSH coletado em papel-filtro encontravam-se entre 0,01 e 5,20 µU/mL. As concentrações do TSH decrescem com o aumento da idade até estabilizar entre 11 e 15 dias de vida. ABSTRACT Neonatal Screening Program for Congenital Hypothyroidism in Northeast of Brazil: Criteria, Diagnosis and Results.It was evaluated the concentration of TSH in blood spot (TSHneo) of 48.039 children included in the Neonatal Screening Program (NSP) for Congenital Hypothyroidism (CH) of Sergipe (SE), a state in the northeast of Brazil. It was also evaluated the concentration of serum TSH, total T4 and free T4 in the recalled children suspicious of having CH, their age in several phases of the program, the covering and frequency of the NSP in the cases from January 2005 to August 2006, comparing them with literature data. The following parameters were used or the analysis: mean, standard deviation, median, coefficient of variation and frequency distribution. The children´s age at the collection in filter-paper specimen was 10 ± 9 days (Mean±SD) and the TSHneo execution assay was done in the period of 31 ± 13 days. In 2005 the covering by the NSP was about 77% in the countryside and 73% in Aracaju, the capital of Sergipe. It was verified that in 99,484% of the children included in the screening, the TSHneo varied from 0,01 to 5,20µU/ml, decreasing according to the age and stabilizing when they were between 11 and 15 days. 248 children were recalled from the TSHneo (1/194).The concentrations of TSH, T4 and free T4 collected by venous puncture were normal in 119 children (1/404). The frequency of suspected CH was 1/485 (99 cases), of CH was 1/6005 (8 cases) and of hypothyroxinemia was 1/16013 (3 cases). Therapy for CH began within 51 ± 12 days.

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Hipotiroidismo congénito, la primera causa de retraso mental prevenible: un desafío para la medicina preventiva

Rincón

Rueda

et al. 2016

revmed

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Artículo recibido el 4 de julio de 2015 y aceptado para publicación el 12 de enero de 2016. RESUMENEl hipotiroidismo congénito es la enfermedad endocrina más frecuente en neonatos y puede ser de manifiesto clínico o subclínico. Es la principal causa de retraso mental tratable y su pronóstico radica en el tamizaje temprano y la instauración oportuna del tratamiento, por lo cual en Colombia se considera necesaria la implementación de un esquema de tamizaje neonatal con una técnica apropiada y de cobertura nacional, equiparable al de otros países. El objetivo de este artículo es realizar una revisión y análisis de la literatura médica existente sobre el hipotiroidismo congénito centrado en la definición, epidemiología, factores etiológicos, tamizaje, diagnóstico y tratamiento; mediante la búsqueda de artículos en las bases de datos PUBMED, EMBASE, REDALYC, OVID, MEDLINE, DYNAMED y CLINICAL KEY (acceso: mayo 2015). Además se realizó revisión de los informes del Instituto Nacional de Salud en el año 2013 y 2014, de las guías europeas de la sociedad de endocrinología pediátrica 2014, de la guía mexicana de hipotiroidismo congénito neonatal 2008 y del consenso colombiano para el diagnóstico y manejo de enfermedades tiroideas.

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Hipotiroidismo Congénito: historia e impacto del tamizaje

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References 24 publications

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Desarrollo intelectual en niños con enfermedades metabólicas congénitas: experiencia en una unidad de medicina familiar

Programa de triagem neonatal para hipotireoidismo congênito no nordeste do Brasil: critérios diagnósticos e resultados

Hipotiroidismo congénito, la primera causa de retraso mental prevenible: un desafío para la medicina preventiva

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