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Newborn Screening: What Pediatricians Should Know Triagem Neonatal: O Que Os Pediatras Deveriam Saber Letícia Lima Leão1, Marcos José Burle De Aguiar2

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Newborn Screening: What Pediatricians Should Know Triagem Neonatal: O Que Os Pediatras Deveriam Saber Letícia Lima Leão1, Marcos José Burle De Aguiar2 0021-7557/08/84-04-Supl/S80 Jornal de Pediatria Copyright © 2008 by Sociedade Brasileira de Pediatria ARTIGO DE REVISÃO Newborn screening: what pediatricians should know Triagem neonatal: o que os pediatras deveriam saber Letícia Lima Leão1, Marcos José Burle de Aguiar2 Resumo Abstract Objetivo: Revisão da literatura para avaliar a situação da Objective: To review the literature on the current situation of triagem neonatal no mundo e no Brasil. Definir o papel do pediatra neonatal screening worldwide and in Brazil. To define the role of nos programas de triagem neonatal. pediatricians in neonatal screening programs. Fontes dos dados: Artigos científicos selecionados por meio Sources: Scientific articles selected by means of searches run de pesquisa feita nos sites de busca médica MEDLINE, Cochrane, on the medical websites MEDLINE, Cochrane, PubMed (MeSH) and PubMed (MeSH) e MD Consult, usando as palavras-chave newborn MD Consult, using the keywords newborn screening, neonatal, screening, neonatal, pediatrics, diagnosis, primary care, ethics e seus pediatrics, diagnosis, primary care, ethics and their equivalents in correspondentes em português de forma isolada e combinada, livros Portuguese, in isolation and in combination, in addition to medical médicos sobre genética e erros inatos do metabolismo, publicados textbooks on genetics and inborn errors of metabolism, published entre janeiro de 1998 e dezembro de 2007, manual de normas between January 1998 and December 2007, the National Neonatal técnicas e rotinas do Programa Nacional de Triagem Neonatal, Screening Program technical standards and routines manual, and portaria 822/2001, do Ministério da Saúde. Ministry of Health decree 822/2001. Síntese dos dados: Os dados da literatura mostram grande Summary of the findings: Published data demonstrate a great diversidade no número de doenças incluídas na triagem neonatal em diversity in the number of diseases included in the neonatal screening cada país. No Brasil, foi criado o Programa Nacional de Triagem programs of different countries. In Brazil, the National Neonatal Neonatal em 2001, determinando a realização da triagem para Screening Program was set up in 2001, to screen for phenylketonuria, fenilcetonúria, hipotireoidismo congênito, doença falciforme e fibrose congenital hypothyroidism, sickle-cell anemia and cystic fibrosis. cística. A triagem ampliada por espectrometria de massa é, hoje, Screening for a wider range of conditions using mass spectrometry motivo de controvérsias e discussões sobre questões financeiras e is currently the subject of disagreement and discussion of financial éticas. and ethical issues. Conclusões: A triagem neonatal representa um dos principais Conclusions: Neonatal screening is one of the most important avanços para a prevenção de doenças na pediatria. Entretanto, sua advances for the prevention of pediatric diseases. Nevertheless, implantação é complexa, multidisciplinar, depende de políticas implementation is complex, multidisciplinary and dependent on públicas de saúde e não há, até o momento, consenso sobre quais public health policies and, to date, there is no consensus on which doenças devam ser incluídas. Diversas questões científicas e éticas diseases should be included. A large number of scientific and ethical precisam ser discutidas para melhor definição dos painéis a serem questions need to be discussed in order to better define the screening seguidos. O pediatra tem papel importante em todas as etapas dos panels to be implemented. Pediatricians have important roles to play programas de triagem neonatal. in all stages of neonatal screening programs. J Pediatr (Rio J). 2008;84(4 Supl):S80-90: Triagem neonatal, triagem J Pediatr (Rio J). 2008;84(4 Suppl):S80-90: Neonatal screening, genética, pediatria, genética médica, ética, ética médica. genetic screening, pediatrics, medical genetics, ethics, medical ethics. Introdução na dieta já era conhecido 1 década antes, mas se realizado A triagem neonatal foi proposta pelo Dr. Robert Guthrie após início dos sintomas da doença, não revertia os danos em 19631. O método proposto, e depois amplamente utili- neurológicos. Guthrie tinha como objetivo identificar indiví- zado em todo o mundo, foi um ensaio de inibição bacteriana duos com fenilcetonúria em fase pré-sintomática para reali- realizado em amostras de sangue seco, colhidas em papel- zar o tratamento mais precocemente. filtro, para detecção das concentrações de fenilalanina. O tra- Posteriormente, várias outras doenças metabólicas, endó- tamento da fenilcetonúria baseado na restrição de fenilalanina crinas, hematológicas e infecciosas foram acrescentadas ao 1. Mestre, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG. Especialista em Genética Médica e Pediatria. Membro, Serviço de Genética, Hospital das Clínicas, UFMG, Belo Horizonte, MG. 2. Doutor, UFMG, Belo Horizonte, MG. Especialista em Genética Médica e Pediatria. Professor associado, Departamento de Pediatria, Faculdade de Medicina, UFMG, Belo Horizonte, MG. Vice-diretor, Núcleo de Ações e Pesquisa em Apoio Diagnóstico (NUPAD), Faculdade de Medicina, UFMG, Belo Horizonte, MG. Não foram declarados conflitos de interesse associados à publicação deste artigo. Como citar este artigo: Leão LL, Aguiar MJ. Newborn screening: what pediatricians should know. J Pediatr (Rio J). 2008;84(4 Suppl):S80-90. doi:10.2223/JPED.1790 S80 Triagem neonatal - Leão LL & Aguiar MJ Jornal de Pediatria - Vol. 84, Nº 4 (Supl), 2008 S8181 painel de triagem. As doenças mais triadas em todo o mundo Critérios para programas de triagem neonatal são: fenilcetonúria, hipotireoidismo congênito, anemia falci- Os critérios habitualmente usados para programas de tria- forme e outras hemoglobinopatias, fibrose cística, galactose- gem, em geral, seguem aqueles propostos por James Wilson mia, deficiência de biotinidase, hiperplasia adrenal congênita, e Gunnar Jungner em 1968, em documento publicado pela doença do xarope de bordo, deficiência de desidrogenase acil- Organização Mundial da Saúde (OMS). São eles: a condição a 2 coenzima A de cadeia média (MCAD) e tirosinemia . ser triada deve ser um importante problema de saúde; a his- tória natural da doença deve ser bem conhecida; deve existir As doenças triadas em cada país, ou mesmo nas diversas um estágio precoce identificável; o tratamento em estágio regiões ou estados de um mesmo país, variam muito, depen- precoce deve trazer benefícios maiores do que em estágios dendo de decisões de políticas de saúde baseadas em aspec- posteriores; um teste adequado deve ser desenvolvido para tos epidemiológicos, étnicos, sociais, econômicos e éticos. O o estágio precoce; o teste deve ser aceitável pela população; pediatra pode informar-se sobre o painel de doenças triadas intervalos para repetição do teste devem ser determinados; nas várias partes do mundo através do site da Sociedade a provisão dos serviços de saúde deve ser adequada para a Internacional de Triagem Neonatal (International Society for carga extra de trabalho clínico resultante da triagem; os ris- Neonatal Screening - ISNS): http://www.isns- cos, tanto físicos quanto psicológicos, devem ser menores do neoscreening.org/. Neste site, são encontradas informações que os benefícios17. úteis, protocolos e recomendações sobre a triagem neonatal e links para diversas sociedades de triagem neonatal do A triagem neonatal nem sempre consegue seguir todos mundo3. esses critérios, uma vez que o grupo de doenças é muito hete- rogêneo e estudos controlados randomizados são difíceis de Uma grande mudança ocorreu nos anos 1990, quando se executar, por serem algumas delas muito raras5,18. iniciou o uso da espectrometria de massa em tandem (MS/ MS) para análise quantitativa de aminoácidos e acilcarnitinas Características da triagem neonatal em papel-filtro. Por esse método, são hoje diagnosticadas A triagem neonatal não é a simples realização de testes doenças do metabolismo dos aminoácidos, da oxidação de áci- para identificar concentrações de substâncias no sangue. É dos graxos e acidemias orgânicas. É possível realizar a tria- mais, também, que um sistema público que assegure que gem para mais de 40 doenças metabólicas em uma única cada resultado esteja ligado a um determinado recém- amostra de sangue, em aproximadamente 2 minutos2,4-9. nascido, o qual, subseqüentemente, receberá um teste diag- nóstico e, se indicado, será encaminhado para o tratamento Hoje, a triagem neonatal é a iniciativa de saúde pública e adequado. Triagem neonatal é um sistema de cinco etapas, de pediatria preventiva, ligada à genética, mais conhecida e habitualmente organizado e conduzido pelo sistema público 10-12 utilizada em todo o mundo . Também no Brasil, trata-se de saúde, que tem as condições e a autoridade necessárias à da maior iniciativa do Sistema Único de Saúde (SUS) na área execução da triagem universal e no qual o pediatra desempe- de genética. Embora o pediatra e o médico de família tenham nha um papel importante2,13,14,17,19-21. um papel proeminente para o seu sucesso, a participação de A primeira etapa compreende o teste de triagem propria- ambas as especialidades nos programas existentes em todo mente dito. O objetivo é a triagem universal, ou seja, que o mundo ainda é pequena2,12-15. Neste trabalho, fizemos uma todos os recém-nascidos sejam triados. As atuações do obs- revisão e atualização da literatura sobre os aspectos mais tetra e do pediatra são fundamentais nesta fase. Os pais pre- importantes da triagem neonatal para o pediatra, com o obje- cisam saber da existência
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