Monteiro Luciana, Foss-Freitas Maria Cristina, Navarro Anderson, Pereira Francisco, Coeli Fernanda, Carneseca Estela, Júnior Renan Montenegro, Foss Milton
a Division of Endocrinology, Department of Internal Medicine , Medical School of Ribeirão Preto, University of São Paulo , São Paulo , BRAZIL.
b Division of Nutrition and Metabolism, Department of Internal Medicine , Medical School of Ribeirão Preto, University of São Paulo , São Paulo , BRAZIL.
J Am Coll Nutr. 2017 May-Jun;36(4):248-252. doi: 10.1080/07315724.2016.1262299. Epub 2017 Apr 26.
Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective lack of subcutaneous fat, which is associated with insulin-resistant diabetes. The Dunnigan variety (FPLD2) is caused by several missense mutations in the lamin A/C (LMNA) gene, most of which are typically located in exon 8 at the codon position 482.
The aim of this study was to assess and compare the dietary intake, leisure-time physical activity (LTPA), and biochemical measurements (glucose, A1C, and plasma lipids) in women with FPLD2 and without (control group, CG) and to examine the associations between dietary intake and biochemical measurements (BM).
LTPA was measured with a questionnaire and metabolic equivalent (MET) hours per week (hours/week) were calculated. Dietary intake by the 3-day recall method and clinical laboratory parameters were collected.
Characteristics of women with FPLD2: 35.8 ± 13.9 years, fat mass = 10 ± 2.3 kg and fat free mass = 41.4 ± 4.5 kg (p < 0.05). Women with FPLD2 showed a smaller intake of energy (kcal), lipids, and carbohydrates and a large intake of protein (p < 0.01) compared to CG. Comparing the 2 groups in terms of LTPA, 78% of women with FPLD2 performed insufficient physical activity. In addition, they had a higher levels of glucose, A1C, and triglycerides (TG) and lower levels of high-density lipoprotein (HDL). There was no correlation between dietary intake and biochemical measurements.
Women with FPLD2 have a lower intake of energy (kcal), lipids, and carbohydrates and greater changes in biochemical measurements. Because this is a rare disease, future studies are needed with encouragement of the practice of physical activity and of healthy eating habits, preventing the onset of diseases.
家族性部分脂肪营养不良（FPL）是一种罕见的遗传性疾病，其特征是选择性缺乏皮下脂肪，并与胰岛素抵抗性糖尿病相关。邓尼根型（FPLD2）由核纤层蛋白A/C（LMNA）基因中的几个错义突变引起，其中大多数通常位于第8外显子的第482密码子位置。
本研究的目的是评估和比较患有FPLD2的女性和未患该病的女性（对照组，CG）的饮食摄入量、休闲时间身体活动（LTPA）和生化指标（血糖、糖化血红蛋白和血脂），并研究饮食摄入量与生化指标（BM）之间的关联。
通过问卷调查测量LTPA，并计算每周代谢当量（MET）小时数（小时/周）。采用3天回顾法收集饮食摄入量和临床实验室参数。
FPLD2女性的特征：年龄35.8±13.9岁，脂肪量=10±2.3kg，去脂体重=41.4±4.5kg（p<0.05）。与CG相比，FPLD2女性的能量（千卡）、脂质和碳水化合物摄入量较低，蛋白质摄入量较高（p<0.01）。在LTPA方面比较两组，78%的FPLD2女性身体活动不足。此外，她们的血糖、糖化血红蛋白和甘油三酯（TG）水平较高，高密度脂蛋白（HDL）水平较低。饮食摄入量与生化指标之间无相关性。
FPLD2女性的能量（千卡）、脂质和碳水化合物摄入量较低，生化指标变化较大。由于这是一种罕见疾病，未来需要鼓励进行身体活动和养成健康饮食习惯的研究，以预防疾病的发生。
