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Abstract(s)
Introdução: A fenilcetonúria é uma doença caracterizada pelo aumento da concentração
sanguínea de fenilalanina. Uma dieta restrita em fenilalanina, suplementada com
substitutos proteicos e produtos dietéticos hipoproteicos, continua a ser o principal
tratamento da fenilcetonúria. Níveis elevados de fenilalanina estão associados a efeitos
neurotóxicos que podem interferir no desenvolvimento neurocognitivo e socioafetivo. Para
facilitar o cumprimento da dieta, os produtos dietéticos hipoproteicos foram
comparticipados na totalidade em Portugal desde junho de 2005.
Objetivo: Caracterizar os doentes com fenilcetonúria antes e após a comparticipação total
dos produtos dietéticos em termos de avaliação do controlo metabólico, desenvolvimento
cognitivo e fatores psicossociais.
Metodologia: Realizou-se um estudo observacional retrospetivo no qual se avaliaram 52
doentes, divididos em dois grupos etários, grupo A (idade <12 anos a 01/01/2006) e grupo
B (idade =12 anos a 01/01/2006), em dois períodos (01/01/1997 a 31/12/2005 e
01/01/2006 a 31/12/2014, antes e após comparticipação). Foram incluídos os doentes
rastreados no Programa Nacional de Diagnóstico Precoce seguidos no Centro Hospitalar
Universitário do Porto, com concentração sanguínea de fenilalanina no rastreio neonatal
=6 mg/dL, a seguir uma dieta restrita em fenilalanina desde o diagnóstico e suplementada
com produtos dietéticos hipoproteicos. Foram caracterizados relativamente ao género,
idade, classificação da fenilcetonúria baseada nos valores de fenilalanina ao rastreio,
controlos metabólicos (medianas anuais de fenilalanina), quociente de desenvolvimento e
quociente intelectual global, tipo de currículo escolar e comorbilidades. Utilizou-se o
software SPSSv25.0 para a análise estatística dos dados.
Resultados: Foram observadas diferenças entre os dois grupos, tendo o grupo A
apresentado um melhor controlo metabólico em ambos os períodos de tempo considerados.
Observou-se uma diminuição na média da mediana anual de fenilalanina após a
comparticipação dos produtos dietéticos hipoproteicos em ambos os grupos, sendo
significativa no grupo B. Verificou-se uma melhoria no valor do quociente intelectual global
após a comparticipação dos produtos dietéticos hipoproteicos no grupo A. O currículo
normal prevaleceu nos dois grupos em ambos os períodos, assim como a ausência das
comorbilidades consideradas.
Conclusão: A comparticipação total dos produtos dietéticos hipoproteicos melhorou
significativamente o controlo metabólico no grupo de doentes com idades =12 anos, onde
predomina a forma clássica da fenilcetonúria. Relativamente ao desenvolvimento neurocognitivo, a melhoria é, sobretudo, observada no grupo de doentes fenilcetonúricos
com idades <12 anos. Estes dados chamam à atenção para a importância da
comparticipação dos produtos dietéticos hipoproteicos, principalmente em doentes com
idades =12 anos, com a forma clássica da doença. Estudos que considerem outras variáveis
que possam ajudar a complementar estes resultados devem ser realizados.
Introduction: Phenylketonuria is a disease that results in an increase of phenylalanine blood concentration. A natural protein and phenylalanine restricted diet supplemented with protein substitutes and special low protein foods remains the main treatment of phenylketonuria. High phenylalanine levels are associated with neurotoxic effects that may interfere with neurocognitive development and socio-affective outcomes. Since June 2005 special low protein foods were fully subsided in Portugal to facilitate dietary compliance. Objective: Our aim was to compare patients with phenylketonuria before and after the full reimbursement of special low protein foods considering their metabolic control, cognitive outcomes and psychosocial factors. Methodology: A retrospective observational study was conducted on 52 patients considering two age groups: group A (<12 years at 01/01/2006) and group B (=12 years at 01/01/2006), in two periods (from 01/01/1997 to 31/12/2005 and from 01/01/2006 to 31/12/2014, before and after reimbursement). The inclusion criteria were: patients with phenylketonuria early diagnosed at the neonatal screening, followed-up at Centro Hospitalar Universitário do Porto, with blood phenylalanine levels at screening =6 mg/dL, following a restricted phenylalanine diet supplemented with special low protein foods. Gender, age, phenylketonuria classification, metabolic control, global quotient development and intelligence quotient, school curriculum and comorbidities were evaluated. The SPSSv25.0 software was used for the data statistical analysis. Results: Differences were observed between the two groups, with the group A having a better metabolic control in both periods of time considered. A decrease in the average of the median annual phenylalanine after the full reimbursement of special low protein foods was found in both groups, being significant in group B. There was an improvement of the global intellectual quotient value in group A after the full reimbursement of special low protein foods. The normal curriculum prevailed in both groups in both periods, as well as the absence of the considered comorbidities. Conclusion: Full reimbursement of special low protein foods significantly improved the metabolic control in the group of patients =12 years, where the classic form of phenylketonuria prevails. Regarding neurocognitive development, improvement is mainly seen in the group of patients <12 years. These data emphasize the importance of the full reimbursement of special low protein foods, especially in patients =12 years, with the classical form of the disease. Studies considering other variables that may help to complement these results should be carried out.
Introduction: Phenylketonuria is a disease that results in an increase of phenylalanine blood concentration. A natural protein and phenylalanine restricted diet supplemented with protein substitutes and special low protein foods remains the main treatment of phenylketonuria. High phenylalanine levels are associated with neurotoxic effects that may interfere with neurocognitive development and socio-affective outcomes. Since June 2005 special low protein foods were fully subsided in Portugal to facilitate dietary compliance. Objective: Our aim was to compare patients with phenylketonuria before and after the full reimbursement of special low protein foods considering their metabolic control, cognitive outcomes and psychosocial factors. Methodology: A retrospective observational study was conducted on 52 patients considering two age groups: group A (<12 years at 01/01/2006) and group B (=12 years at 01/01/2006), in two periods (from 01/01/1997 to 31/12/2005 and from 01/01/2006 to 31/12/2014, before and after reimbursement). The inclusion criteria were: patients with phenylketonuria early diagnosed at the neonatal screening, followed-up at Centro Hospitalar Universitário do Porto, with blood phenylalanine levels at screening =6 mg/dL, following a restricted phenylalanine diet supplemented with special low protein foods. Gender, age, phenylketonuria classification, metabolic control, global quotient development and intelligence quotient, school curriculum and comorbidities were evaluated. The SPSSv25.0 software was used for the data statistical analysis. Results: Differences were observed between the two groups, with the group A having a better metabolic control in both periods of time considered. A decrease in the average of the median annual phenylalanine after the full reimbursement of special low protein foods was found in both groups, being significant in group B. There was an improvement of the global intellectual quotient value in group A after the full reimbursement of special low protein foods. The normal curriculum prevailed in both groups in both periods, as well as the absence of the considered comorbidities. Conclusion: Full reimbursement of special low protein foods significantly improved the metabolic control in the group of patients =12 years, where the classic form of phenylketonuria prevails. Regarding neurocognitive development, improvement is mainly seen in the group of patients <12 years. These data emphasize the importance of the full reimbursement of special low protein foods, especially in patients =12 years, with the classical form of the disease. Studies considering other variables that may help to complement these results should be carried out.
Description
Keywords
Comparticipação Total Controlo Metabólico Fatores Psicossociais Fenilcetonúria Produtos Dietéticos Hipoproteicos