Triagem neonatal de distúrbios metabólicos

Abstract

Diversos distúrbios metabólicos que se manifestam de forma grave e precoce podem ter sua história natural substancialmente alterada pela introdução de um tratamento em sua fase pré-clínica. O diagnóstico pré-sintomático só é possível com a realização de testes de triagem populacional em recém-nascidos. O esforço para realizar um programa de triagem neonatal deve ser empreendido quando um distúrbio metabólico preenche os seguintes requisitos: 1) o distúrbio traz, se não tratado, conseqüências graves para a saúde do afetado; 2) existe um tratamento que pode modificar substancialmente a história natural da doença; 3) o tratamento é significativamente mais eficaz quando implantado na fase pré-clínica da doença; 4) existe um teste de triagem que seja simples, eficiente, aplicável em larga escala e de baixo custo. Baseados nessas premissas, programas de triagem neonatal foram inicialmente implantados para fenilcetonúria e hipotireoidismo congênito, e hoje estão sendo aplicados para um número crescente de situações. Esses programas já estão bem-consolidados nos países desenvolvidos, mas é ainda um desafio a sua eficiente aplicação nos países do Terceiro Mundo.

Avaliação do programa de prevenção e promoção da saúde de fenilcetonúricos

“…It is crucial to have an integrated, complex and multidisciplinary system in place in order to handle cases in timely fashion. 13 There was no significant relationship between motor score and family income in the cases studied. This reveals the efficiency of the support provided to low-income families served by the program, a basic condition for prevention and health promotion measures to be developed successfully due to the high cost of diet therapy.…”

“…National screening coverage is approximately 50% of all Brazilian neonates. 13 When evaluating the results of the follow-up and treatment program for PKU children in the state of Paraná, there was found a 93.75% efficiency rate in cases with early treatment. The two children with low motor scores showed a critical condition in terms of the study variables: low monthly family income and father and mother with little or no schooling, besides having started treatment later.…”

Triagem neonatal: o que os pediatras deveriam saber

“…In 1980, APAE added congenital hypothyroidism to their screening. 15,45 After this, many other private laboratories, primarily located in the Southeast and South administrative regions of Brazil, made tests available for neonatal screening for a range of diseases. 44,45 In 1990, the Children's and Adolescents' Statute (Law 8069/1990) made neonatal screening obligatory.…”

“…15,45 After this, many other private laboratories, primarily located in the Southeast and South administrative regions of Brazil, made tests available for neonatal screening for a range of diseases. 44,45 In 1990, the Children's and Adolescents' Statute (Law 8069/1990) made neonatal screening obligatory. In 1992, Ministry of Health decree 22 reaffirmed the obligatory nature of neonatal screening and added testing for phenylketonuria and congenital hypothyroidism.…”

“…These procedures were then added to the SUS table of tests to be offered by any laboratory, which gave greater impetus to neonatal screening in the different states of Brazil and resulted in the first state-wide programs. 44,45 In 2001, Ministry of Health decree 822, of the 6th of June, created the NNSP. 15,44,45 This expanded the neonatal screening program in Brazil to four diseases (phenylketonuria, congenital hypothyroidism, sickle-cell anemia and cystic fibrosis) and the objective was to achieve 100% coverage of live births.…”