DEDICATÓRIA Dedico este trabalho aos meus amados pais, João e Fátima, pelo apoio incondicional nesta jornada de estudo, ao amor e carinho sempre dedicados à mim. Exemplos de amor, respeito e determinação, forneceram-me condições emocionais para permanecer longe deles enquanto este trabalho era realizado, além do grandioso apoio financeiro. Sem vocês nada disso teria sido possível. À Francelise, minha querida irmã, que mesmo distante geograficamente esteve sempre presente, cercando-me de

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... carinho e ensinamentos. Papai, mamãe e irmãzinha, vocês são minha família querida, meu porto seguro, minha razão de viver! À Dra. Lígia Araújo Martini, minha querida orientadora, por ter acreditado em mim quando nem eu mesma acreditava. Serei eternamente grata pelo investimento em meu crescimento profissional e pessoal. A vocês, muito obrigada! AGRADECIMENTOS A todos os pacientes com osteogênese imperfeita, pela oportunidade de aprender sobre esta patologia, compreender suas realidades e me apaixonar por cada um de vocês, acreditando que o trabalho sempre vale a pena. À amiga Bárbara, pela amizade e imenso apoio no decorrer do mestrado, principalmente quando as coisas pareciam assumir dimensões assustadoramente difíceis. Às queridas amigas Mirian, Larissa e Jamile, por toda a paciência, incentivo e carinho. Vocês me ajudaram a passar por todas as dificuldades impostas e me fizeram acreditar que quem tem amigos, tem tudo. Ao Carlos, por toda a paciência e carinho dedicados a mim. Por diversas vezes direcionei meu nervosismo e estresse a ele e mesmo não tendo culpa em muitas vezes, compreendeu-me e me perdoou. Obrigada, amor. À Pedritinha, simplesmente por existir e compreender a necessidade da minha ausência. Às amigas Vivian, Natielen, Gisele, Karen, Patrícia e Luana, pelo companheirismo em todos os momentos. À técnica Geni e à aluna de iniciação científica Ailim, pelas valiosas ajudas na execução deste trabalho, além da amizade. Descritores: osteogênese imperfeita, nutrição, composição corporal e taxa de metabolismo basal. Roque JP. Avaliação nutricional de adolescentes e adultos com Osteogênese Imperfeita/ Nutritional evaluated in children and adolescent with osteogenesis imperfecta [dissertation]. São Paulo (Brasil): ABSTRACT Background: Osteogenesis imperfecta (OI) is a disease that leads to fragility and reduced bone mass, not secondary to another known condition. Due to the importance of nutritional status for bone health, there is a need for better knowledge on the nutritional status, body composition and dietary intake of individuals with OI. Objective: To evaluate the nutritional status and nutrient intakes of adolescents and adults with OI. Methods: A case-control study with adolescents and adults of both genders. Nutritional status (BMI, supine length and armspan), body composition and bone mineral density (BMD) by Dual Energy X-Ray Absorptiometry -DXA, dietary intake (3 days Dietary Records), biochemical measurements (total calcium, phosphorus, albumin, creatinina, PTH, CTX and vitamin D), physical activity assessment and determination of basal metabolic rate (BMR) were evaluated. Statistical analyses comprised One Way ANOVA and Student-T test to calculated differences between groups and Pearson's correlation test. Significance was considered when p<0.05. Results: There were 26 subjects with OI (50% OI type I / type III OI 50%) and 8 healthy subjects matched by sex and age in the control group. The number of fractures was higher in subjects with OI type III, an average of 60 fractures compared to 19 in the OI type I. The BMD in the lumbar spine L1-L4 was significantly higher in the control group compared to the types of OI I and III [-0.4 (0.5) vs -2.7 (1.0) and -2.7 (0.6) g/cm 2 , p<0.05], respectively. According to BMI, 100% of subjects in the control group were considered normal weight, 46% of individuals with OI type III are obese and 31% of individuals type I OI, overweight. Regarding percentage of body fat, 14% of individuals with in the control group, 83% in OI type III and 42% in individuals with type I presented excess of body fat. In the case group, there was negative association between number of fractures and fat-free body mass and positive association between number of fractures and body fat% and BMI. There was no difference of calcium and phosphorus intakes between the groups. However, vitamin D was significantly lower in the control group. In addition considering foods and supplementation, 58% and 12% of individuals in the case group did not reach the recommended levels of calcium and vitamin D, respectively. Individuals with type III showed serum phosphorus significantly higher when compared with OI type I [4.3 (0.8) vs. 3.3 (0.4) mg/dl, p<0.05], respectively. Was observed 71%, 77% and 69% of insufficiency vitamin D in individuals of control group, OI types I and III, respectively. A significant difference between BMR in kcal/day between genders of adults with OI type III was observed being significantly higher in females. Conclusion: There was a high percentage of individuals with OI with higher body weight and body fat, mainly among OI type III. The calcium and vitamin D intakes was under recommended levels in most individuals with OI and in the control group. These results demonstrates that a nutritional intervention program is necessary for these patients, such an adequate nutritional status and dietary pattern could contribute to bone health.