Desenvolvimento e Implantação de ferramenta digital facilitadora do tratamento de pacientes brasileiros com Fenilcetonúria - PKU
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Data
2021-11-05
Autores
Brito, Vanessa Souza
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Editor
Universidade Estadual Paulista (Unesp)
Resumo
A Fenilcetonúria (PKU) é um erro inato do metabolismo de aminoácidos que resulta de mutações do gene que codifica a produção da enzima fenilalanina hidroxilase, responsável pelo catabolismo da fenilalanina (Phe). Sua prevalência no Brasil é estimada em 1:25.000 nascidos vivos. A PKU não tratada está associada ao comprometimento intelectual progressivo. A principal estratégia para evitar o dano neurológico irreversível é a restrição de Phe da dieta, que deve se iniciar no período neonatal. Isto envolve cálculos dietéticos precisos pela equipe de saúde, que prescreverá a quantidade de Phe diária permitida, e pela família, que necessitará calcular a ingestão diária de Phe conforme alimentos ingeridos. Objetivos. Criação de um Site dirigido a pacientes brasileiros com PKU, aos seus cuidadores e aos profissionais da saúde que os atendem, fornecendo ferramentas digitais gratuitas para a prescrição nutricional pelo profissional de saúde e a organização pessoal e gerenciamento da rotina alimentar pelo paciente com PKU, mediante cálculos automatizados do teor de Phe e outros componentes nutricionais, tanto na consulta de um alimento individual quanto no planejamento de um dia alimentar completo. Material e Métodos. Foi desenvolvido o Site “PKU Brasil” por 3 médicos gastroenterologistas pediátricos com experiência em doenças metabólicas e nutrição (VSB, MAC, NCM), e um analista programador orientado pelos médicos (MRM), que colaboraram no design e conteúdo das ferramentas. Todos os cálculos automatizados foram cientificamente fundamentados com base em estudos, pesquisas, protocolos, consensos ou prática clínica. O protótipo inicial do site foi avaliado por médicos, nutricionistas e pais/cuidadores de pacientes pediátricos mediante entrevista digital padronizada, com respostas em escala Likert, em formulário eletrônico. Resultados. O Site “PKU Brasil” disponibiliza as ferramentas de consultas e cálculos dietéticos automatizados para o manejo de PKU e conteúdo educacional sobre o problema tanto para a equipe de profissionais de saúde quanto para os pacientes com PKU e/ou seus cuidadores. O site foi avaliado por 35 indivíduos. Foram avaliados os seguintes critérios: acurácia, legibilidade, nível de indicação do site, credibilidade, segurança e privacidade, aspectos éticos e usabilidade. A avaliação foi positiva, sendo o índice de validade de conteúdo - IVC de 98,1% e, portanto, superior a 90%, significando a aprovação do design e conteúdo pelos avaliadores. Discussão. Após pesquisas, planejamento, criação de fórmulas para cálculos nutricionais, discussões e correções, foi possível criar o site PKU Brasil, direcionado a pacientes brasileiros com PKU, aos seus cuidadores e aos profissionais da saúde que os atendem, sendo o seu conteúdo validado pela avaliação positiva de uma amostra de usuários
Phenylketonuria (PKU) is an inborn error of amino acid metabolism that results from mutations in the gene that encodes the production of the enzyme phenylalanine hydroxylase, responsible for the catabolism of phenylalanine (Phe). Its prevalence in Brazil is estimated at 1:25,000 live births. Untreated PKU is associated with progressive intellectual impairment. The main strategy to prevent irreversible neurological damage is dietary Phe restriction, which should start in the neonatal period. This involves accurate dietary calculations by the healthcare team, who will prescribe the amount of daily Phe allowed, and by the family, who will need to calculate the daily Phe intake based on food intake. Goals. Creation of a website aimed at Brazilian patients with PKU, their caregivers and the health professionals who serve them, providing free digital tools for nutritional prescription by the health professional and the personal organization and management of the food routine by the patient with PKU, through automated calculations of Phe content and other nutritional components, both when consulting an individual food and when planning a complete food day. Material and methods. The website “PKU Brasil” was developed by 3 pediatric gastroenterologists with experience in metabolic diseases and nutrition (VSB, MAC, NCM), and an programmer analyst (MRM), who collaborated on the design and content of the tools. All automated calculations were scientifically substantiated based on studies, research, protocols, consensus or clinical practice. The initial prototype of the website was evaluated by physicians, nutritionists and parents/caregivers of pediatric patients through a standardized digital interview, with responses on a Likert scale, in an electronic form. Results. The “PKU Brazil” website provides automated dietary consultation and calculation tools for PKU management and educational content about the problem for both healthcare professionals and PKU patients and/or their caregivers. The site was rated by 35 individuals. The following criteria were evaluated: accuracy, readability, level of indication of the site, credibility, security and privacy, ethical aspects and usability. The evaluation was positive, with the content validity index - CVI of 98.1% and, therefore, higher than 90%, meaning the approval of the design and content by the evaluators. Discussion. After researching, planning, making formulas for nutritional calculations, discussions and corrections, it was possible to create the PKU Brazil website, aimed at Brazilian patients with PKU, their caregivers and the health professionals who attend them, with its content validated by the positive assessment from a sample of users.
Phenylketonuria (PKU) is an inborn error of amino acid metabolism that results from mutations in the gene that encodes the production of the enzyme phenylalanine hydroxylase, responsible for the catabolism of phenylalanine (Phe). Its prevalence in Brazil is estimated at 1:25,000 live births. Untreated PKU is associated with progressive intellectual impairment. The main strategy to prevent irreversible neurological damage is dietary Phe restriction, which should start in the neonatal period. This involves accurate dietary calculations by the healthcare team, who will prescribe the amount of daily Phe allowed, and by the family, who will need to calculate the daily Phe intake based on food intake. Goals. Creation of a website aimed at Brazilian patients with PKU, their caregivers and the health professionals who serve them, providing free digital tools for nutritional prescription by the health professional and the personal organization and management of the food routine by the patient with PKU, through automated calculations of Phe content and other nutritional components, both when consulting an individual food and when planning a complete food day. Material and methods. The website “PKU Brasil” was developed by 3 pediatric gastroenterologists with experience in metabolic diseases and nutrition (VSB, MAC, NCM), and an programmer analyst (MRM), who collaborated on the design and content of the tools. All automated calculations were scientifically substantiated based on studies, research, protocols, consensus or clinical practice. The initial prototype of the website was evaluated by physicians, nutritionists and parents/caregivers of pediatric patients through a standardized digital interview, with responses on a Likert scale, in an electronic form. Results. The “PKU Brazil” website provides automated dietary consultation and calculation tools for PKU management and educational content about the problem for both healthcare professionals and PKU patients and/or their caregivers. The site was rated by 35 individuals. The following criteria were evaluated: accuracy, readability, level of indication of the site, credibility, security and privacy, ethical aspects and usability. The evaluation was positive, with the content validity index - CVI of 98.1% and, therefore, higher than 90%, meaning the approval of the design and content by the evaluators. Discussion. After researching, planning, making formulas for nutritional calculations, discussions and corrections, it was possible to create the PKU Brazil website, aimed at Brazilian patients with PKU, their caregivers and the health professionals who attend them, with its content validated by the positive assessment from a sample of users.
Descrição
Palavras-chave
Fenilcetonúria, Erro inato do metabolismo de aminoácidos, Doença rara, dietoterapia, Tecnologia da informação, Criança, Adolescente, Phenylketonuria, Diet, Inborn error of metabolism, Phenylketonuria treatment, Health information technology, Children, Adolescent