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Mémoire de Maîtrise
DOI
https://doi.org/10.11606/D.5.2022.tde-28042022-130315
Document
Auteur
Nom complet
Mariana Guilherme Sisdelli
Adresse Mail
Unité de l'USP
Domain de Connaissance
Date de Soutenance
Editeur
São Paulo, 2021
Directeur
Jury
Kim, Chong Ae (Président)
Krebs, Vera Lúcia Jornada
Perez, Ana Beatriz Alvarez
Toma, Ricardo Katsuya
Titre en portugais
Caracterização do estado nutricional de pacientes com síndrome de Williams-Beuren
Mots-clés en portugais
Avaliação nutricional
Composição corporal
Consumo de alimentos
Estado nutricional
Lanches
Síndrome de Williams-Beuren
Resumé en portugais
INTRODUÇÃO: A Síndrome de Williams-Beuren (SWB) é uma doença genética de herança autossômica dominante, causada pela delação de múltiplos genes no braço longo do cromossomo 7 (na região 7q11-23). Caracteriza-se por um acometimento multisistemico, no qual a baixa estatura é um sinal recorrente. Os aspectos nutricionais são pouco estudados, dando maior enfoque nas dificuldades alimentares dos primeiros anos de vida. OBJETIVOS: Avaliar o estado nutricional de indivíduoes com SWB e suas respectivas mães; composição corporal, consumo alimentar e perfil lipídico, realizar uma análise comparativa entre mães e filhos, entre os sexos e após 3 meses de intervenção nutricional; além de identificar fatores associados ao consumo alimentar de risco entre os pacientes. MÉTODOS: Participaram do estudo 32 pacientes (18 M; 14 F) com SWB e 31 mães. A idade dos pacientes variou de 7 a 29 anos, sendo (média 14,5a ;mediana 14a) e as mães de 24 a 63 anos (média 42,4a; mediana 42,5a). O estado nutricional foi avaliado a partir da realização das medidas antropométricas (peso, altura, circunferência do braço e dobra cutânea triciptal), da análise do consumo alimentar habitual e do perfil lipídico. RESULTADOS: Constatou-se baixa estatura em 9/32; 28% dos indivíduos. Observou-se que a maior parte dos pacientes apresentaram estado nutricional de eutrofia (21/32;66%), seguidos de sobrepeso (7/32;), obesidade (2/32; 6%) e magreza (2/32; 6%). Os parâmetros de perfil lipídico de pacientes estavam aumentados (CLT em 37,5%, LDL em 31,2% e TGL 6,2%) e HDL reduzidos em 34,3%, relacionados positivamente com os parâmetros de suas mães, assim como IMC e AGB (p<0,05). Houve consumo de energia e macronutrientes acima do ideal para proteína e meninos consomem mais quando comparados às meninas (p<0,05). Quando avaliado fatores associados ao consumo de guloseimas as meninas têm 3,57 a chance de consumo em relação ao sexo masculino e pacientes com excesso de peso 3,24 a chance dos indivíduos sem excesso de peso (p<0,05). CONCLUSÕES: A baixa estatura encontrada em 28% dos pacientes foi semelhante a encontrada nos estudos anteriores, sendo possivelmente intrínseca a SWB. A maioria dos pacientes apresentou IMC (66%) e a composição corporal (59,4%) na faixa da normalidade. Dos pacientes que estavam com IMC em sobrepeso e obesidade, 77% tiveram seu perfil lipídico alterado devido ao excesso de peso e consumo alimentar inadequado. Os resultados indicam que os parâmetros antropométricos e consumo alimentar das mães podem influenciar o dos filhos com SWB e sugerem uma atenção especial ao consumo de guloseimas de meninas e indivíduos com excesso de peso. Estudos em coortes maiores poderiam melhor caracterizar esses achados favorecendo o manejo nutricional nesses pacientes
Titre en anglais
Characterization of the nutritional status of patients with WilliamsBeuren syndrome
Mots-clés en anglais
Body composition
Food consumption
Nutrition assessment
Nutritional status
Snacks
Williams-Beuren syndrome
Resumé en anglais
INTRODUCTION: Williams-Beuren Syndrome (WBS) is a genetic disease of autosomal dominant inheritance, caused by the deletion of multiple genes in the long arm of chromosome 7 (in the region 7q11-23). It is characterized by a multisystemic involvement, in which short stature is a recurrent sign. Nutritional aspects are poorly studied, with greater focus on eating difficulties in the first years of life. OBJECTIVES: To assess the nutritional status of individuals with WBS and their respective mothers; body composition, food consumption and lipid profile, perform a comparative analysis between mothers and children, between genders and after 3 months of nutritional intervention; in addition to identifying factors associated with risky food consumption (consumption of unhealthy snacks) among patients. METHODS: Participated of the study 32 patients (18 M; 14 F) with confirmed molecular diagnosis for SWB and 31 mothers. Patients' ages ranged from 7 to 29 years (average 14,5y; median 14y) and mothers from 24 to 63 years (average 42,4y; median 42.5y). Nutritional status was assessed based on anthropometric measurements (weight, height, arm circumference and triceps skinfold thickness), analysis of usual food consumption and lipid profile. RESULTS: Short stature was found in 9/32; 28% of individuals. It was observed that most patients had a normal nutritional status (21/32; 66%), followed by overweight (7/32;), obesity (2/32; 6%) and thinness (2/32; 6 %). The lipid profile parameters of patients were increased (CLT by 37.5%, LDL by 31.2% and TGL by 6.2%) and HDL reduced by 34.3%, positively related to the parameters of their mothers, as well as BMI and AGB (p<0.05). There was consumption of energy and macronutrients above the ideal for protein and boys consume more when compared to girls (p<0.05). When factors associated with candy consumption were evaluated, girls had a 3.57 chance of consumption compared to males, and overweight patients had 3.24 a chance of individuals without excess weight (p<0.05). CONCLUSIONS: The short stature found in 28% of the patients was similar to that found in previous studies, possibly being intrinsic to SWB. Most patients had a BMI (66%) and body composition (59.4%) within the normal range. Of the patients who were overweight and obese with BMI, 77% had their lipid profile altered due to excess weight and inadequate food consumption. The results indicate that the anthropometric parameters and food consumption of mothers can influence those of children with WBS and suggest that special attention be paid to the consumption of sweets by girls and overweight individuals. Studies in larger cohorts could better characterize these findings, favoring nutritional management in these patients
 
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Date de Publication
2022-04-28
 
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