Nutritional intervention in berardinelli syndrome or generalized congenital lipoatrophy: case report/INTERVENCAO NUTRICIONAL NA SINDROME DE BERARDINELLI OU LIPODISTROFIA CONGENITA GENERALIZADA: RELATO DE CASO

• Published in: Revista brasileira de obesidade, nutrição e emagrecimento Vol. 13; no. 79; p. 434
• Main Authors: de Araujo, Edna Karol Rodrigues, Braga, Ana Vaeline Patricio, Tavares, Helder Cardoso, Santana, Milana Drumond Ramos, Marques, Thyciara Fontenele
• Format: Journal Article
• Language: Portuguese
• Published: Instituto Brasileiro de Pesquisa e Ensino em Fisiologia do Exercicio. IBPEFEX 01-05-2019
• Subjects: Biochemistry; Case studies; Diabetes mellitus; Diet therapy; Exercise; Fatty acids; Genetic disorders; Health; Health aspects; Hypertension; Kidney failure; Life expectancy; Lipids; Lipodystrophy; Medical records; Nutrition; Nutritional requirements; Polysaccharides; Triglycerides; Unsaturated fatty acids
• ISSN: 1981-9919; 1981-9919

Introduction and Objectives: Generalized Congenital Lipoatrophy is a rare, autosomal recessive, low prevalence genetic disorder whose diagnosis accompanies several metabolic and systemic alterations, most notably diabetes mellitus, systemic arterial hypertension, hepatic steatosis, dyslipidemia and renal failure. The main objective is to report how the Nutritional Interference in Generalized Congenital Lipoatrophy improves the health status of patients. Materials and Methods: This is an exploratory case study with a qualitative approach, carried out in the city of Juazeiro do Norte-CE. From the reading and interpretation of the medical record, information and menu application were obtained to improve biochemical rates. Discussion: Within the many metabolic changes installed, characteristics of the syndrome, dietary intervention is a form of treatment. Together with the practice of physical activity and medications, they improved the quality of life and, consequently, the life expectancy of the patients. The achievement of nutritional goals in treatment is variable and depends on adherence to diet. Dietary guidelines recommend: restriction of total energy intake, saturated fat and simple carbohydrates, giving preference to the consumption of complex carbohydrates, soluble fibers, medium chain triglycerides and unsaturated fatty acids and drug therapy. Results and Conclusion: Regarding the literature on the most adequate diet therapy in Generalized Congenital Lipodystrophy, the relevance of the topic is still relevant, since the use of adequate diet therapy improves the patient's metabolic status, improving the biochemical rates and the expectation of life of the carriers. Key words: Diet therapy. Generalized Congenital Lipodystrophy. Nutrition. Introducao e Objetivos: A Lipodistrofia Congenita Generalizada e uma desordem genetica rara, autossomica recessiva, de baixa prevalencia cujo diagnostico acompanha varias alteracoes metabolicas e sistemicas, com maior destaque: diabetes mellitus, hipertensao arterial sistemica, esteatose hepatica, dislipidemia e insuficiencia renal. O principal objetivo e relatar como a Interferencia Nutricional na Lipodistrofia Congenita Generalizada melhora o estado de saude de pacientes portadores. Materiais e Metodos: Trata-se de um estudo de caso, exploratorio com abordagem qualitativa, realizada na cidade de Juazeiro do Norte-CE. A partir da leitura e interpretacao do prontuario foram obtidas informacoes e aplicacao de cardapio para melhora de taxas bioquimicas. Discussao: Dentro de tantas alteracoes metabolicas instaladas, caracteristicas da sindrome, a intervencao dietoterapica e uma forma de tratamento. Aliado a pratica de atividade fisica e as medicacoes, melhoraram a qualidade de vida e consequentemente a expectativa de vida dos portadores. O alcance das metas nutricionais no tratamento e variavel e depende da adesao a dieta. As orientacoes dieteticas recomendam: restricao do aporte energetico total, de gordura saturada e de carboidratos simples, dando preferencia ao consumo de carboidratos complexos, fibras soluveis, triglicerideos de cadeia media e acidos graxos insaturados e a terapia medicamentosa. Resultados e Conclusao: Sobre a literatura encontrada acerca da dietoterapia mais adequada na Lipodistrofia Congenita Generalizada ainda e escassa, sendo relevante o conhecimento do tema, pois a utilizacao da dietoterapia adequada melhora o estado metabolico do paciente, melhorando as taxas bioquimicas e a expectativa de vida dos portadores. Palavras-chave: Dietoterapia. Lipodistrofia Congenita Generalizada. Nutricao.