Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program

Botler, Judy; Camacho, Luiz Antônio Bastos; Cruz, Marly Marques da

doi:10.1590/s0102-311x2012000900002

Cited by 29 publications

(24 citation statements)

References 14 publications

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“…2) Mendes et al 18 3) Botler et al 17 Mendes et al 18 Amorim et al 9 Botler et al 19 Stranieri & Takano 8 Magalhães et al 20 Nunes et al 21 Botler et al 22 Vespoli et al 23 Costa et al …”

Section: Resultsmentioning

confidence: 99%

“…Os dois estudos do estado de SP exibiram resultados referentes aos municípios da regional de Ribeirão Preto 20 e da cidade de Araraquara 23 , não sendo, portanto, representativos de todo o estado. O estado do RJ possuía dois SRTN, designados como modelos A e B 19,22 . Os desfechos cobertura e incidência foram objetivo de quatro estudos [21][22][23][24] e os seis restantes analisaram, além dessas variáveis, também a idade na coleta do TP, confirmação diagnóstica e início do tratamento 8,9,[17][18][19][20] .…”

Section: Discussionunclassified

“…O estado do RJ possuía dois SRTN, designados como modelos A e B 19,22 . Os desfechos cobertura e incidência foram objetivo de quatro estudos [21][22][23][24] e os seis restantes analisaram, além dessas variáveis, também a idade na coleta do TP, confirmação diagnóstica e início do tratamento 8,9,[17][18][19][20] . Ficou evidente que as variáveis investigadas nos estudos inclusos nessa revisão foram divergentes, o que compromete a comparação entre os dados e dificulta traçar um perfil do panorama nacional da triagem para PKU, além do fato do pequeno número de trabalhos publicados sobre o tema abranger apenas sete estados brasileiros, sendo que três deles exibiram dados municipais 23 20 .…”

Section: Discussionunclassified

“…Ficou evidente que as variáveis investigadas nos estudos inclusos nessa revisão foram divergentes, o que compromete a comparação entre os dados e dificulta traçar um perfil do panorama nacional da triagem para PKU, além do fato do pequeno número de trabalhos publicados sobre o tema abranger apenas sete estados brasileiros, sendo que três deles exibiram dados municipais 23 20 . Dos três estados credenciados na fase II do PNTN, o Rio de Janeiro apresentou o menor valor de cobertura 9,19,20,22,24 . Nesse estado, a existên-cia de dois SRTN com estratégias diferenciadas para cada etapa do processo torna mais complexo o PTN no RJ 19,22 .…”

Section: Discussionunclassified

“…Dos três estados credenciados na fase II do PNTN, o Rio de Janeiro apresentou o menor valor de cobertura 9,19,20,22,24 . Nesse estado, a existên-cia de dois SRTN com estratégias diferenciadas para cada etapa do processo torna mais complexo o PTN no RJ 19,22 . Percebe-se que os estados brasileiros devem ampliar a cobertura da triagem dos NV visando atingir 100%.…”

Section: Discussionunclassified

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Overview of neonatal screening for phenylketonuria in Brazil

Marqui

2016

Medicina (Ribeirão Preto)

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RESUMOObjetivo: Apresentar um panorama da triagem neonatal para Fenilcetonúria no Brasil. Metodologia:Foi realizada uma busca eletrônica, no LILACS, empregando os termos "neonatal screening" e "Brazil" e "Phenylketonuria". Dez artigos foram selecionados para leitura por cumprirem os critérios previamente estabelecidos. Resultados: Os estudos foram realizados nos estados de Sergipe, Tocantins, Bahia, Rio de Janeiro, Santa Catarina, Mato Grosso e São Paulo, e a cobertura variou de 32,3% a 95%. Há uma escassez de publicações sobre a situação da triagem neonatal para fenilcetonúria nos diversos estados de nosso país, o que dificulta a generalização e comparação dos dados. Conclusão: A triagem para fenilcetonúria precisa ser melhorada, visando principalmente a antecipação da idade de início do tratamento. Constitui um programa de saúde pública complexo, que requer maior atenção para atingir plenamente seus objetivos e aumentar sua efetividade. Palavras ABSTRACTObjectives: To present an overview of neonatal screening for phenylketonuria in Brazil. Methodology:An electronic search was made in LILACS, employing the terms "neonatal screening" and "Brazil" and "Phenylketonuria". Ten papers were selected for reading because they met the established criteria. Results:The studies were conducted in the states of Sergipe, Tocantins, Bahia, Rio de Janeiro, Santa Catarina, Mato Grosso and São Paulo, and the coverage ranged from 32.3% to 95%. Publications on the situation of neonatal screening for phenylketonuria are scarce in several states of our country, making it difficult to generalize and compare the data. Conclusions: Screening for phenylketonuria needs to be improved, especially with regard to the age of starting treatment. It is a complex public health program that requires greater attention to fully achieve its goals and increase its effectiveness.

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“…2) Mendes et al 18 3) Botler et al 17 Mendes et al 18 Amorim et al 9 Botler et al 19 Stranieri & Takano 8 Magalhães et al 20 Nunes et al 21 Botler et al 22 Vespoli et al 23 Costa et al …”

Section: Resultsmentioning

confidence: 99%

Section: Discussionunclassified

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Overview of neonatal screening for phenylketonuria in Brazil

Marqui

2016

Medicina (Ribeirão Preto)

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Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil

Neto

Laranjeira

Quelhas

et al. 2018

Molec Gen & Gen Med

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BackgroundPhenylketonuria (PKU) is an autosomal recessive disease resulting from mutations in the PAH gene. Most of the patients are compound heterozygotes, and genotype is a major factor in determining the phenotypic variability of PKU. More than 1,000 variants have been described in the PAH gene. Rio de Janeiro's population has a predominance of Iberian, followed by African and Amerindian ancestries. It is expected that most PKU variants in this Brazilian state have originated in the Iberian Peninsula. However, rare European, African or pathogenic variants that are characteristic of the admixed population of the state might also be found.MethodsA total of 102 patients were included in this study. Genomic DNA was isolated from dried blood spots. Sanger sequencing was used for PAH gene variant identification. Deletions and duplications were also screened using MLPA analysis. Haplotypes were also determined.ResultsNine (8.8%) homozygous and 93 (91.2%) compound heterozygous patients were found. The spectrum included 37 causative mutations. Missense, nonsense, and splicing pathogenic variants corresponded to 63.7%, 2.9%, and 22.6% of the mutant alleles, respectively. Large (1.5%), and small deletions, inframe (5.4%) and with frameshift (3.9%), comprised the remainder. The most frequent pathogenic variants were: p.V388M (12.7%), p.R261Q (11.8%), IVS10‐11G>A (10.3%), IVS2+5G>C (6.4%), p.S349P (6.4%), p.R252W (5.4%), p.I65T (4.4%), p.T323del (4.4%), and p.P281L (3.4%). One novel variant was detected: c.934G>T (p.G312C) [rs763115697].ConclusionThe three most frequent pathogenic variants in our study (34.8% of the alleles) were also the most common in other Brazilian states, Portugal, and Spain (p.V388M, p.R261Q, IVS10‐11G>A), corroborating that the Iberian Peninsula is the major source of PAH mutations in Rio de Janeiro. Pathogenic variants that have other geographical origins, such IVS2+5G>C, p.G352Vfs*48, and IVS12+1G>A were also detected. Genetic drift and founder effect may have also played a role in the mutation spectrum we observed.

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Changes in the incidence and etiology of congenital hypothyroidism detected during 30 years of a screening program in central Serbia

et al. 2015

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During the study period associated with lowering of the TSH cutoffs, the overall incidence of CH in Serbia tripled, including transient CH, ectopy, and dyshormonogenesis, while prevalence of athyreosis remained stable during 30 years. Significant increase in the incidence of both permanent and transient CH was observed, associated with lowering of TSH cutoffs as well as other yet unidentified factors.

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Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program

Cited by 29 publications

References 14 publications

Overview of neonatal screening for phenylketonuria in Brazil

Overview of neonatal screening for phenylketonuria in Brazil

Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil

Changes in the incidence and etiology of congenital hypothyroidism detected during 30 years of a screening program in central Serbia

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