Acompanhamento nutricional de paciente com mucopolissacaridose tipo 1: um relato de caso clínico

SILVA, Gisele Medeiros da

Trabalho de Conclusão de Curso - Graduação

Acompanhamento nutricional de paciente com mucopolissacaridose tipo 1: um relato de caso clínico

Introduction: Mucopolysaccharidosis type I is part of lysosomal storage diseases, due to deficiency of enzymes responsible for the breakdown of glycosaminoglycans / mucopolysaccharides within cells, triggering varied clinical manifestations, with progressive and multisystemi...

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Autor principal:	SILVA, Gisele Medeiros da
Grau:	Trabalho de Conclusão de Curso - Graduação
Publicado em:	2023
Assuntos:	Mucopolissacaridose I Avaliação nutricional Obesidade Mucopolysaccharidosis I Nutritional assessment Obesity CNPQ::CIENCIAS DA SAUDE::NUTRICAO
Acesso em linha:	https://bdm.ufpa.br:8443/jspui/handle/prefix/5239

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spelling	oai:https:--bdm.ufpa.br:8443:prefix-52392023-02-11T03:06:08Z Acompanhamento nutricional de paciente com mucopolissacaridose tipo 1: um relato de caso clínico SILVA, Gisele Medeiros da DELLA NOCE, Rosilene Reis http://lattes.cnpq.br/4806232270895879 SILVA, Luisa Margareth Carneiro da http://lattes.cnpq.br/2465169924232779 https://orcid.org/0000-0002-5775-4861 Mucopolissacaridose I Avaliação nutricional Obesidade Mucopolysaccharidosis I Nutritional assessment Obesity CNPQ::CIENCIAS DA SAUDE::NUTRICAO Introduction: Mucopolysaccharidosis type I is part of lysosomal storage diseases, due to deficiency of enzymes responsible for the breakdown of glycosaminoglycans / mucopolysaccharides within cells, triggering varied clinical manifestations, with progressive and multisystemic condition. Between 1982 and 2019, 75 cases of MPS were diagnosed in Northern Brazil, 12 of which were MPS type I. Clinical manifestations affect vision, hearing, cause short stature, rough facial features, frequent respiratory infections, airway obstruction aerial, umbilical hernia, skeletal deformities (multiple dysostosis), inadequate or excessive weight gain (risk factor for the development of the metabolic syndrome), and others. The main treatment for the disease is enzyme replacement therapy, which consists of intravenous administration of the deficient enzyme. Objective: To report the importance of nutritional monitoring according to the clinical manifestations of an individual with type I mucopolysaccharidosis. Methodology: This is a case report carried out in 2021, based on consultations and data collection from medical records at a university hospital in Belém / PA, of a patient diagnosed with type I mucopolysaccharidosis; data were obtained to identify the sociodemographic aspects; to identify the clinical history (past and present); assessment of nutritional status through body composition using bioimpedance and anthropometric assessment; assessment of food consumption, collected by 24-hour dietary recall; and biochemical tests of lipidogram, blood count, complementary and specific tests for diagnosis and monitoring of the disease. Results: The patient had a late diagnosis of mucopolysaccharidosis. He also presented several clinical manifestations characteristic of the disease, including all interconnected with the nutritional aspect, in addition to changes in the biochemical exams of lipidogram, blood count and complementary exams; as well as changes in body composition parameters with excess body fat and obesity; inadequacy of micronutrients and low consumption of fruits, vegetables and legumes. Conclusion: It highlights the importance of nutritional monitoring and knowledge of health professionals about the clinical aspects of the disease, improving the identification of signs and symptoms and possible nutritional repercussions. New cohort studies with a larger sample that address the dietary aspects of these patients are also needed. Introdução: A mucopolissacaridose tipo I faz parte das doenças de armazenamento lisossomal, devido a deficiência de enzimas responsáveis pela degradação de glicosaminoglicanos/ mucopolissacarídeos dentro das células, desencadeando manifestações clínicas variadas, com condição progressiva e multissistêmica. Há, entre os anos de 1982 e 2019, 75 casos diagnosticados de MPS na região norte do Brasil, sendo 12 casos de MPS tipo I. As manifestações clínicas acometem a visão, audição, causa baixa estatura, características faciais grosseiras, infecções respiratórias frequentes, obstrução das vias aérea s, hérnia umbilical, deformidades esqueléticas (disostose múltipla), ganho inadequado ou excessivo de peso (fator de risco para o desenvolvimento da síndrome metabólica), entre outros. O principal tratamento para a doença é a terapia de reposição enzimática, que consiste na administração intravenosa da enzima em déficit. Objetivo: Relatar a importância do acompanhamento nutricional de acordo com as manifestações clínicas de um indivíduo com mucopolissacaridose tipo I. Metodologia: Trata-se de um relato de caso realizado no ano de 2021, a partir de atendimentos e coleta de dados do prontuário em um hospital universitário em Belém/PA, de um paciente diagnosticado com mucopolissacaridose tipo I; obteve-se dados para identificação dos aspectos sociodemográficos; para identificar o histórico clínico (pregresso e atual); avaliação do estado nutricional por meio da composição corporal utilizando a bioimpedância e avaliação antropométrica; avaliação do consumo alimentar, coletado por recordatórios alimentares 24 horas; e exames bioquímicos de lipidograma, hemograma, exames complementares e específicos de diagnóstico e acompanhamento da doença. Resultados: O paciente apresentou diagnóstico tardio da mucopolissacaridose. Apresentou ainda diversas manifestações clínicas características da doença, incluindo todas as interligadas com o aspecto nutricional, além de alterações nos exames bioquímicos de lipidograma, hemograma e exames complementares; assim como alterações nos parâmetros da composição corporal com excesso de gordura corporal e obesidade; inadequação de micronutrientes e baixo consumo de frutas, verduras e legumes. Conclusão: Evidencia-se a importância do acompanhamento nutricional e conhecimento dos profissionais de saúde sobre os aspectos clínicos da doença, melhorando a identificação dos sinais e sintomas e possíveis repercussões nutricionais. Também são necessários mais estudos, de coorte e com maior amostra, que abordem os aspectos alimentares desses pacientes. 2023-02-10T16:13:07Z 2023-02-10T16:13:07Z 2021 Trabalho de Conclusão de Curso - Graduação SILVA, Gisele Medeiros da. Acompanhamento nutricional de paciente com mucopolissacaridose tipo 1: um relato de caso clínico. Orientadora: Rosilene Reis Della Noce. 2021. 82 f. Trabalho de Conclusão de Curso (Bacharelado em Nutrição) - Faculdade de Nutrição, Instituto de Ciências da Saúde, Universidade Federal do Pará, Belém, 2021. Disponível em: https://bdm.ufpa.br:8443/jspui/handle/prefix/5239. Acesso em:. https://bdm.ufpa.br:8443/jspui/handle/prefix/5239 Acesso Aberto Disponível na Internet via correio eletrônico: bibsaude@ufpa.br
institution	Biblioteca Digital de Monografias - UFPA
collection	MonografiaUFPA
topic	Mucopolissacaridose I Avaliação nutricional Obesidade Mucopolysaccharidosis I Nutritional assessment Obesity CNPQ::CIENCIAS DA SAUDE::NUTRICAO
spellingShingle	Mucopolissacaridose I Avaliação nutricional Obesidade Mucopolysaccharidosis I Nutritional assessment Obesity CNPQ::CIENCIAS DA SAUDE::NUTRICAO SILVA, Gisele Medeiros da Acompanhamento nutricional de paciente com mucopolissacaridose tipo 1: um relato de caso clínico
topic_facet	Mucopolissacaridose I Avaliação nutricional Obesidade Mucopolysaccharidosis I Nutritional assessment Obesity CNPQ::CIENCIAS DA SAUDE::NUTRICAO
description	Introduction: Mucopolysaccharidosis type I is part of lysosomal storage diseases, due to deficiency of enzymes responsible for the breakdown of glycosaminoglycans / mucopolysaccharides within cells, triggering varied clinical manifestations, with progressive and multisystemic condition. Between 1982 and 2019, 75 cases of MPS were diagnosed in Northern Brazil, 12 of which were MPS type I. Clinical manifestations affect vision, hearing, cause short stature, rough facial features, frequent respiratory infections, airway obstruction aerial, umbilical hernia, skeletal deformities (multiple dysostosis), inadequate or excessive weight gain (risk factor for the development of the metabolic syndrome), and others. The main treatment for the disease is enzyme replacement therapy, which consists of intravenous administration of the deficient enzyme. Objective: To report the importance of nutritional monitoring according to the clinical manifestations of an individual with type I mucopolysaccharidosis. Methodology: This is a case report carried out in 2021, based on consultations and data collection from medical records at a university hospital in Belém / PA, of a patient diagnosed with type I mucopolysaccharidosis; data were obtained to identify the sociodemographic aspects; to identify the clinical history (past and present); assessment of nutritional status through body composition using bioimpedance and anthropometric assessment; assessment of food consumption, collected by 24-hour dietary recall; and biochemical tests of lipidogram, blood count, complementary and specific tests for diagnosis and monitoring of the disease. Results: The patient had a late diagnosis of mucopolysaccharidosis. He also presented several clinical manifestations characteristic of the disease, including all interconnected with the nutritional aspect, in addition to changes in the biochemical exams of lipidogram, blood count and complementary exams; as well as changes in body composition parameters with excess body fat and obesity; inadequacy of micronutrients and low consumption of fruits, vegetables and legumes. Conclusion: It highlights the importance of nutritional monitoring and knowledge of health professionals about the clinical aspects of the disease, improving the identification of signs and symptoms and possible nutritional repercussions. New cohort studies with a larger sample that address the dietary aspects of these patients are also needed.
author_additional	DELLA NOCE, Rosilene Reis
author_additionalStr	DELLA NOCE, Rosilene Reis
format	Trabalho de Conclusão de Curso - Graduação
author	SILVA, Gisele Medeiros da
title	Acompanhamento nutricional de paciente com mucopolissacaridose tipo 1: um relato de caso clínico
title_short	Acompanhamento nutricional de paciente com mucopolissacaridose tipo 1: um relato de caso clínico
title_full	Acompanhamento nutricional de paciente com mucopolissacaridose tipo 1: um relato de caso clínico
title_fullStr	Acompanhamento nutricional de paciente com mucopolissacaridose tipo 1: um relato de caso clínico
title_full_unstemmed	Acompanhamento nutricional de paciente com mucopolissacaridose tipo 1: um relato de caso clínico
title_sort	acompanhamento nutricional de paciente com mucopolissacaridose tipo 1: um relato de caso clínico
publishDate	2023
url	https://bdm.ufpa.br:8443/jspui/handle/prefix/5239
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score	11.653393

Acompanhamento nutricional de paciente com mucopolissacaridose tipo 1: um relato de caso clínico

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