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www.ssoar.info Treatment of child with phenylketonuria: a literature review
Abstract
Objective: To analyze the importance of Neonatal Screening for the treatment of children with phenylketonuria. Method: This is an integrative review. To select the studies we looked at the electronic databases Scientific Electronic Library Online SciELO journal portal and CAPES in September 2013, using the keywords: Phenylketonuria, Triage, Child health. Results: The analysis of the articles indicated that in the period 2008-2013, the year 2010 had the highest number of publications. Most studies paused to examine the importance of neonatal screening program to evaluate the tracking phenylketonuria, as well as to characterize the performance of children diagnosed and treated early with phenylketonuria. Conclusion: Studies have shown that treatment is significantly more effective when deployed in pre clinical stage of the disease and there is a screening test, the screening test, which is simple, efficient , applicable on a large scale and low cost. Descriptors: Phenylketonuria, Triage, Child health. RESUMO Objetivo: Analisar a importância da Triagem Neonatal para o tratamento de crianças com fenilcetonúria. Método: Trata-se de uma revisão integrativa. Para selecionar os estudos, pesquisou-se nas bases de dados eletrônicas Scientific Eletronic Library Online – SCIELO e Portal de Periódicos da CAPES em setembro de 2013, utilizando os descritores: fenilcetonúria, triagem e saúde da criança. Resultados: A análise dos artigos indicou que no período de 2008 a 2013, o ano de 2010 teve o maior número de publicações. A maioria dos estudos deteve-se em analisar a importância da triagem neonatal, avaliar o programa para rastreamento de fenilcetonúria, assim como caracterizar o desempenho de crianças com fenilcetonúria diagnosticadas e tratadas precocemente. Conclusão: Os estudos mostraram que o tratamento é significativamente mais eficaz quando implantado na fase pré-clínica da doença e existe um teste de triagem, o teste do pezinho, que é simples, eficiente, aplicável em larga escala e de baixo custo. Descritores: Fenilcetonúria, Triagem e Saúde da criança. RESUMEN Objetivo: Analizar la importancia de Tamizaje Neonatal para el tratamiento de los niños con fenilcetonuria. Método: Se trata de una revisión integradora. Para seleccionar los estudios que analizamos las bases de datos electrónicas Scientific Electronic Library Online Portal de la revista SciELO y CAPES en septiembre de 2013, utilizando las palabras clave: Fenilcetonuria, Triaje, Salud del Niño. Resultados: El análisis de los artículos se indica que en el período 20082013, el año 2010 tuvo el mayor número de publicaciones. La mayoría de los estudios se detuvieron para examinar la importancia del programa de cribado neonatal para evaluar los fenilcetonuria seguimiento, así como para caracterizar el rendimiento de los niños son diagnosticados a tiempo con fenilcetonuria. Conclusión: Los estudios han demostrado que el tratamiento es significativamente más eficaz cuando se despliega en la etapa de pre clínica de la enfermedad y hay una prueba de detección, la prueba de detección, que es simple, eficaz, aplicable a gran escala y bajo costo. Descriptores: Fenilcetonuria, Triaje, Salud del niño. 1 Graduando do Curso de Odontologia do Centro Universitário UNINOVAFAPI. E-mail: [email protected] 2 Professora do Curso de Odontologia do Centro Universitário UNINOVAFAPI. E-mail: [email protected] 3 Graduada em Biomedicina no Centro Universitário UNINOVAFAPI. E-mail: [email protected] 4 Mestre em Educação pela UFPI. Doutoranda em Odontologia pela UNAERP. Professora da UFPI. Professora do Curso de Odontologia do Centro Universitário UNINOVAFAPI. E-mail: [email protected] 5 Professor do Curso de Nutrição do Centro Universitário UNINOVAFAPI. E-mail: [email protected] 6 Graduando de Enfermagem do Centro Universitário UNINOVAFAPI. Bolsista do Programa Institucional de Bolsa de Iniciação Científica do CNPq PIBIC. Email: [email protected] INTEGRATIVE REVIEW OF THE LITERATURE ISSN 2175-5361 DOI: 10.9789/2175-5361.2013v5n2Esp2p363 Moura GCB, Carvalho JO, Carvalho FG et al. Treatment of child with phenylketonuria... J. res.: fundam. care. online 2013.dec. 5(6): 363-371 364 Phenylketonuria (PKU) is the most common of the inborn errors of amino acid metabolism. Due to a deficiency of phenylalanine hydroxylase, the enzyme that catalyzes the conversion of phenylalanine to tyrosine. The introduction of a diet low in phenylalanine should begin in the first months of life, preferably in the first month, to prevent mental retardation and more severe manifestation of the disease.1 The hyperphenylalaninemia (HPA), the generic name given to high levels of phenylalanine (Phe) in blood, is a primary disorder of hydroxylating Phe system, which may be caused by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH) or enzymes that synthesize or reduce the tetrahydrobiopterin coenzyme.2 Phenylalanine is an essential aromatic amino acid, mainly metabolised in the liver. Phenylalanine which is not required for protein anabolism, tyrosine is hydroxylated by phenylalanine hydroxylase. This has a quaternary structure having four polypeptide chains, each connected to an iron atom, that binds oxygen, to form tyrosine.3 Different types of hyperphenylalaninemia can be found, according to the metabolic error involved, forming a heterogeneous group of diseases, including phenylketonuria (PKU) and classical variations of hyperphenylalaninemia (PAHs), as persistent HPA, the mild HPA and atypical PKU. Currently in the healthcare scenario phenylketonuria has been diagnosed through neonatal screening tests, popularly known as the Guthrie Test, which is mandatory throughout the country since the 80s, after the implementation of the National Neonatal Screening Program (NNSP ). Thus, all newborns should undergo this test for screening of some metabolic abnormalities, including phenylketonuria, targeting the immediate initiation of treatment. The phenylketonuric subjects are clinically normal at birth, beginning to manifest developmental delays around 6 months of age, with spasms, hypotonia, and rash. Display reduced pigmentation, microcephaly and epilepsy. The excretion of phenylketones provides the urine the characteristic odor. However, it is known that Brazil is ethnically, socially and economically marked by numerous inequalities, making difficult the establishment and development of health programs, as an example of Neonatal Screening for the treatment of phenylketonuria. Thus, the success and effectiveness of neonatal screening programs depend mainly on the involvement of health authorities, educational campaigns including healthcare professionals and the population and investments. Given this issue the study aims to analyze the importance of Neonatal Screening for the treatment of children with phenylketonuria. This study is an integrative review. For its construction the following steps were covered: establishment of hypothesis and objectives of the integrative review, establishment of criteria for inclusion and exclusion of articles (sample selection); definition of information to be extracted from the selected articles, analysis of results, discussion and presentation the results and the last stage consisted of submitting the review. INTRODUCTION