Dificuldades alimentares em pacientes com Fenilcetonúria / Feeding difficulties in patients with Phenylketonuria

RESUMO Objetivo analisar os resultados de um instrumento que se propõe a auxiliar na identificação das dificuldades alimentares em crianças com Fenilcetonúria (PKU), em comparação a crianças sem a doença. Método estudo transversal, controlado, com amostra de conveniência composta por pacientes com PKU e por indivíduos hígidos, equiparados por idade e sexo. O convite para participação no estudo foi feito por meio de divulgação da pesquisa nas redes sociais. As respostas foram fornecidas pelos responsáveis, sendo que 46 controles e 28 pacientes participaram. Além desses, 13 responsáveis por pacientes em acompanhamento em um Ambulatório de Tratamento de Erros Inatos do Metabolismo foram convidados por ligação telefônica, sendo que 12 aceitaram o convite. Todos os participantes responderam a Escala Brasileira de Alimentação Infantil (EBAI) de forma eletrônica. Resultados foram incluídos no estudo 86 participantes, sendo 40 pacientes (mediana de idade, 2 anos; intervalo interquartil (IQR) = 2 - 4) e 46 controles (mediana de idade, 3,5 anos; IQR = 2 - 5,25). Dez (25%) pacientes e 13 (28,3%) controles apresentaram resultados compatíveis com dificuldades alimentares, demonstrando uma frequência semelhante entre os grupos. O estudo observou que os pacientes com PKU apresentaram menos autonomia alimentar (p = 0,005), foram menos amamentados (p = 0,002) e usaram mais mamadeira que os controles (p = 0,028). Conclusão a frequência de dificuldades alimentares referidas pelos cuidadores foi semelhante entre os grupos, porém as crianças com PKU demonstraram menos autonomia para se alimentar, foram menos amamentadas e usaram mais mamadeira quando comparadas com as crianças sem a doença.

ABSTRACT Purpose to analyze the results of an instrument that aims to assist in the identification of feeding difficulties in children with Phenylketonuria (PKU), compared to children without the disease. Methods cross-sectional, controlled study with a convenience sample composed of patients with PKU and healthy individuals, matched for age and sex. The invitation to participate in the study was made through the dissemination of the research on social networks. The answers were provided by the guardians, 46 controls and 28 patients agreed to participate. In addition to these, 13 guardians of patients being followed up at an Outpatient Clinic for the Treatment of Inborn Errors of Metabolism were invited by phone call, and 12 accepted the invitation. All participants answered the Brazilian Infant Feeding Scale (in Portuguese Escala Brasileira de Alimentação Infantil (EBAI)) electronically. Results the study included 86 participants, 40 patients (median of age = 2 years; interquartile range (IQR) = 2 - 4) and 46 controls (median of age = 3.5 years; IQR = 2 - 5.25). Ten (25%) patients and 13 (28.3%) controls had suspicion of feeding difficulties, demonstrating a similar frequency of feeding difficulties between groups. The study found that PKU patients had less feed autonomy (p = 0.005), were less breastfed (p = 0.002) and used more baby's bottle than controls (p = 0.028). Conclusion the frequency of feeding difficulties reported by caregivers was similar between the comparison groups, but children with PKU had less feed autonomy, were less breastfed and used more baby's bottles when compared to children without the disease.

Brazilian Food Reference Guide for Phenylalanine Content: A Study Based on the Perception of PKU Patients and Health Providers

Abstract The mainstay of management of phenylketonuria (PKU) is restriction of dietary phenylalanine (Phe) intake. The present study sought to assess the perception and understanding of health care providers and lay users (patients/family members/caregivers) regarding the national reference database for checking the Phe content of foods, provided by the Brazilian Health Regulatory Agency (Anvisa), whose data are presented in the Table of Phenylalanine Content of Foods (TCFA-Anvisa) and recently in the Phenylalanine Content of Foods Dashboard (PCCFA-Anvisa); and to identify factors which interfere with the usability of these resources. Two online questionnaires, one for providers (n=33) and another for lay users (n=194), were used to collect sociodemographic information, knowledge about dietary management of PKU, sources of information about the Phe content of foods, and perception and understanding of the Anvisa tools. TCFA-Anvisa and PCCFA-Anvisa were not used as main sources of information by either group. Among the participants who had used these tools (15 providers;35 lay users), most considered the PCCFA-Anvisa to be superior or partially superior to the TCFA-Anvisa. The main limitations reported were related to layout and limited variety of foods. We suggest that the limitations identified in this study be considered for future improvement of these resources.

Assessment of newborn screening in the public health system of a municipality in northern Rio Grande do Sul

Introduction: Newborn screening allows the screening of diseases that are still in the asymptomatic period and whose early diagnosis and treatment are associated with reduced infant morbidity and mortality. The aim of this study was to evaluate the public National Newborn Screening Program in the municipality of Carazinho, state of Rio Grande do Sul (RS), Brazil. Methods: This was a population-based, retrospective, descriptive study. We collected and transcribed data from a database of the Carazinho municipal laboratory, which is affiliated with the referral center for newborn screening in RS. The records of all individuals undergoing newborn screening from 2005 to 2010 were reviewed, and information was collected on the program coverage, time elapsed between birth and screening (first collection), and test results. Results: The program had a coverage of 75.5%. One suspected case of phenylketonuria, three suspected cases of congenital hypothyroidism and no suspected cases of hemoglobinopathy were identified. In addition, there were 18 positive results for hemoglobin S heterozygosity, five for hemoglobin D heterozygosity, two for hemoglobin C heterozygosity, and one for a rare variant hemoglobin. When analyzing the newborn's age at the time of blood collection, it was observed that 63.1% were within the recommended age range. Conclusions: Our findings suggest the need for optimization of public newborn screening in the evaluated municipality. The strategies to be adopted should include education of the population and especially of managers and health professionals about the importance of newborn screening. (AU)

Access to treatment for phenylketonuria by judicial means in Rio Grande do Sul, Brazil / Acesso ao tratamento para fenilcetonúria por via judicial no Rio Grande do Sul, Brasil

Treatment of phenylketonuria (PKU) includes the use of a metabolic formula which should be provided free of charge by the Unified Health System (SUS). This retrospective, observational study sought to characterize judicial channels to obtain PKU treatment in Rio Grande do Sul (RS), Brazil. Lawsuits filed between 2001- 2010 and having as beneficiaries PKU patients requesting treatment for the disease were included. Of 20 lawsuits filed, corresponding to 16.8% of RS patients with PKU, 19 were retrieved for analysis. Of these, only two sought to obtain therapies other than metabolic formula. In all the other 17 cases, prior treatment requests had been granted by the State Department of Health. Defendants included the State (n = 19), the Union (n = 1), and municipalities (n = 4). In 18/19 cases, the courts ruled in favor of the plaintiffs. Violation of the right to health and discontinuation of State-provided treatment were the main reasons for judicial recourse. Unlike other genetic diseases, patients with PKU seek legal remedy to obtain a product already covered by the national pharmaceutical assistance policy, suggesting that management failures are a driving factor for judicialization in Brazil.

O tratamento da fenilcetonúria (PKU) inclui o uso de uma fórmula metabólica (FM) fornecida sem custos pelo Sistema Único de Saúde (SUS). O objetivo do estudo foi caracterizar o uso da via judicial para obter tratamento para PKU no estado do Rio Grande do Sul (RS), Brasil, através de um estudo retrospectivo e observacional, analisando ações judiciais. Foram incluídas ações judiciais arquivadas entre 2001-2010 que possuíam como beneficiários indivíduos com PKU solicitando alguma forma de tratamento para PKU. Foram localizados 20 casos, correspondendo a 16,8% dos pacientes com PKU no RS, sendo 19 obtidos para análise. Somente dois procuravam obter outras terapias que a FM. Nos outros 17 casos, uma solicitação de tratamento anterior fora concedida pela Secretaria Estadual de Saúde. Os réus incluem o Estado (n = 19), União (n = 1) e municípios (n = 4). Em 18/19 casos, os tribunais decidiram a favor dos demandantes. Violação do direito à saúde e interrupção do tratamento prestado pelo Estado foram os principais motivos para recorrer aos tribunais. Diferente de outras doenças genéticas, os pacientes com PKU buscam o meio jurídico para obter um produto já incluso na política de assistência farmacêutica nacional, sugerindo que falhas de gestão são um dos fatores desencadeantes da judicialização no país.