RESUMEN
OBJECTIVES: Phenylketonuria (PKU) was the first inherited metabolic disease known to cause mental retardation for which a newborn screening program (NBS) was developed. The objective of this study was to evaluate the effectiveness of PKU NBS and the management of cases in the northeastern Brazilian state of Sergipe (SE). MATERIALS AND METHODS: We reviewed the phenylalanine concentrations in filter-paper collected from the heel (PKUneo) of 43,449 newborns; blood concentrations obtained by venipuncture in the subjects with abnormal PKUneo; the children's age at several phases of the program, the incidence of the disease from January 2007 to June 2008; and metabolic control of the patients. RESULTS: The coverage of NBS/SE was 78.93%. The children's age was 10 ± 7 days at PKUneo collection. Twelve children were recalled based on the PKUneo cutoff value at 28 ± 13 days. From these, the concentrations of phenylalanine collected by venipuncture were normal in five children. The incidence of hyperphenylalaninemia was 1/43,449, and of PKU was 1/8,690 (5 cases). One suspected subject died. Another death occurred in the cohort, in a confirmed PKU case. PKU treatment began within 51 ± 12 days of life. In the four patients under dietary phenylalanine restriction, metabolic control was often difficult. CONCLUSIONS: PKU NBS/SE has satisfactory coverage and adequate cutoff for recalling patients and diagnosis, but the onset of treatment is delayed, and follow-up metabolic control is frequently inadequate.
Asunto(s)
Tamizaje Neonatal/normas , Fenilalanina/sangre , Fenilcetonurias/diagnóstico , Evaluación de Programas y Proyectos de Salud , Biomarcadores/sangre , Recolección de Muestras de Sangre/métodos , Brasil/epidemiología , Estudios Transversales , Femenino , Humanos , Incidencia , Lactante , Recién Nacido , Modelos Lineales , Masculino , Fenilcetonurias/epidemiología , Valores de ReferenciaRESUMEN
Objectives: Phenylketonuria (PKU) was the first inherited metabolic disease known to cause mental retardation for which a newborn screening program (NBS) was developed. The objective of this study was to evaluate the effectiveness of PKU NBS and the management of cases in the northeastern Brazilian state of Sergipe (SE).Materials and methods: We reviewed the phenylalanine concentrations in filter-paper collected from the heel (PKUneo) of 43,449 newborns; blood concentrations obtained by venipuncture in the subjects with abnormal PKUneo; the children’s age at several phases of the program, the incidence of the disease from January 2007 to June 2008; and metabolic control of the patients.Results: The coverage of NBS/SE was 78.93%. The children’s age was 10 ± 7 days at PKUneo collection. Twelve children were recalled based on the PKUneo cutoff value at 28 ± 13 days. From these, the concentrations of phenylalanine collected by venipuncture were normal in five children. The incidence of hyperphenylalaninemia was 1/43,449, and of PKU was 1/8,690 (5 cases). One suspected subject died. Another death occurred in the cohort, in a confirmed PKU case. PKU treatment began within 51 ± 12 days of life. In the four patients under dietary phenylalanine restriction, metabolic control was often difficult.Conclusions: PKU NBS/SE has satisfactory coverage and adequate cutoff for recalling patients and diagnosis, but the onset of treatment is delayed, and follow-up metabolic control is frequently inadequate.
Objetivos: A fenilcetonúria (PKU) foi a primeira causa metabólica hereditária de retardamento mental para a qual foi desenvolvido um programa de triagem em recém-nascidos (NBS). O objetivo deste estudo foi avaliar a eficácia do NBS para a PKU e o manejo dos casos em Sergipe (SE), Brasil.Materiais e métodos: Revisamos as concentrações de fenilalanina no filtro de papel coletado do calcanhar (PKUneo) de 43.449 recém-nascidos, suas concentrações de sangue obtidas por punção venosa em indivíduos com PKUneo anormal, a idade das crianças em diversas fases do programa, a incidência da doença no período de janeiro de 2007 a junho de 2008 e o controle metabólico dos pacientes.Resultados: A cobertura da NBS/SE foi de 78,93%. A idade das crianças era de 10 ± 7 dias na coleta de PKUneo. Doze crianças foram reconvocadas com base no ponto de corte de PKUneo aos 28 ± 13 dias de idade. Destas, as concentrações de fenilalanina por venipunctura foram normais em cinco. A incidência da hiperfenilalaninemia foi 1/43.449 e de PKU foi 1/8.690 (5 casos), e um indivíduo suspeito foi a óbito. Outro óbito ocorreu na coorte em um caso de PKU confirmado. O tratamento para a PKU começou com 51 ± 12 dias. Nos quatro pacientes sob restrição de fenilalanina alimentar, o controle metabólico foi frequentemente difícil.Conclusões: PKU NBS/SE apresenta uma cobertura satisfatória e ponto de corte adequado para reconvocação e diagnóstico, mas o início do tratamento é atrasado e o controle no seguimento é frequentemente inadequado.
Asunto(s)
Femenino , Humanos , Lactante , Recién Nacido , Masculino , Tamizaje Neonatal/normas , Evaluación de Programas y Proyectos de Salud , Fenilalanina/sangre , Fenilcetonurias/diagnóstico , Biomarcadores/sangre , Recolección de Muestras de Sangre/métodos , Brasil/epidemiología , Estudios Transversales , Incidencia , Modelos Lineales , Fenilcetonurias/epidemiología , Valores de ReferenciaRESUMEN
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 5.20 microU/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.
Asunto(s)
Hipotiroidismo Congénito/diagnóstico , Tamizaje Neonatal/métodos , Tirotropina/sangre , Tiroxina/sangre , Biomarcadores/sangre , Brasil , Estudios Transversales , Humanos , Lactante , Recién Nacido , Valores de ReferenciaRESUMEN
Avaliamos 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 reali-zação 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 por cento e 73 por cento, respectivamente. Verificamos que em 99,484 por cento 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. Foram convocadas 248 crianças a partir do TSH coletado em papel-filtro (1/194). Na convocação, as concentrações do TSH, T4 e T4 livre coletado por punção venosa estavam normais em 119 crianças (1/404). A freqüência de HC suspeito foi de 1/485 (99 casos), de HC foi de 1/6.005 (8 casos) e de hipotiroxinemia foi de 1/16.013 (3 casos). A terapia para o HC foi iniciada com 51 ± 12 dias.
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 percent in the countryside and 73 percent in Aracaju, the capital of Sergipe. It was verified that in 99,484 percent 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.
Asunto(s)
Humanos , Lactante , Recién Nacido , Hipotiroidismo Congénito/diagnóstico , Tamizaje Neonatal/métodos , Tirotropina/sangre , Tiroxina/sangre , Brasil , Biomarcadores/sangre , Estudios Transversales , Valores de ReferenciaRESUMEN
Avaliamos o tempo gasto nas diferentes etapas do Programa de Triagem para o Hipotireoidismo Congênito (HC) e Fenilcetonúria (PKU), sua cobertura e a freqüência em Sergipe, de 1998 a 2003, e comparamos com 1995. A idade da criança na coleta foi 12 ± 11 dias (Média ± Desvio Padrão) em 2003, inferior aos 30 ± 19 dias no 2° semestre de 1995. No 2° semestre/2003, o resultado foi analisado pelo médico com 28 ± 15 dias para o HC e 25 ± 15 dias para o PKU, menor que o tempo utilizado pelo médico no 2° semestre de 1995, 80 ± 40 dias. O tempo, no 2° semestre de 2003, entre o recebimento da amostra da coleta no laboratório e a realização do ensaio foi de 6 ± 4 dias para o TSH e de 3 ± 2 dias para a fenilalanina. A cobertura, em 2003, para o Interior foi de 67 por cento e 85 por cento para a Capital contra 5 por cento e 42 por cento no 2° semestre de 1995, respectivamente. A incidência de 1998 a 2003, no Serviço Público de Saúde de Sergipe para o HC, foi de 1/4850 e para o PKU, de 1/23036. De 1998 a 2003, a terapia foi iniciada com 49 ± 17 e 51 ± 12 dias para o HC e PKU, respectivamente. A redução do tempo nas etapas do programa e o aumento da cobertura indicam uma evolução favorável do referido programa.
Asunto(s)
Humanos , Lactante , Recién Nacido , Hipotiroidismo Congénito , Hipotiroidismo/diagnóstico , Tamizaje Neonatal , Fenilcetonurias/diagnóstico , Brasil , Evaluación de Programas y Proyectos de SaludRESUMEN
An evaluation was made of the timing delays in the various phases of the Screening Program for Congenital Hypothyroidism (HC) and Phenylketonuria (PKU), the coverage and incidence in the State of Sergipe from 1998 to 2003. The results were compared to the data from 1995. The age of the children in the sampling was 12 +/- 11 days (mean +/- standard deviation) lower than the 30 +/- 19 days in the second semester of 1995. In the second half of 2003, the results were analyzed by the physician after 28 +/- 15 days for HC and 25 +/- 15 days for PKU, lower than 80 +/- 40 days for the second semester of 1995. The period between the receipt of the samples at the laboratory and the assay in the second half of 2003 was 6 +/- 4 days for TSH and 3 +/- 2 days for phenylalanine. The coverage in 2003 for the interior of the State and the Capital was 67% and 85%, compared with 5% and 42% in the second semester of 1995, respectively. The incidence from 1998 to 2003 in the Public Health Service of Sergipe for HC was 1/4928 and 1/23406 for PKU. From 1998 to 2003 the therapy was initiated after 49 +/- 17 days and 51 +/- 12 days for HC and PKU, respectively. The reduction in the program timing delays and the increase in the coverage indicate development in the referred program.