目的:本研究旨在分析晚发型多酰基辅酶A脱氢酶缺乏症(MADD)患者的身体成分特征及其治疗后的变化。
方法:测量晚发性MADD患者的身体成分,炎症性肌病,线粒体肌病,和健康的控制。进行了身体成分与传统参数之间的相关性分析。进行组间比较和受试者工作特征曲线分析。
结果:共有42名参与者包括13例晚发性MADD患者,13个健康对照,10患有炎症性肌病,和6线粒体肌病。双侧握力和用力肺活量(FVC)与骨骼肌质量呈中强相关(右手握力:r=0.728,P<0.001;左手握力:r=0.676,P<0.001;FVC:r=0.754,P<0.001)。血清CK与右手握力呈中度负相关(r=-0.618,P=0.005),左手握力(r=-0.630,P=0.004),FVC(r=-0.665,P=0.002),手动肌肉测试(MMT)(r=-0.729,P=0.000),和瘦体重骨骼肌百分比(r=-0.501,P=0.029)。晚发性MADD患者的身体成分特征如下:(1)明显的脂肪堆积,(2)肌肉量减少,(3)降低体内水分和细胞内水的比例。身体成分的一些指标被发现是有价值的诊断和消除鉴别诊断,如内脏脂肪面积(敏感性84.62%;特异性92.31%;AUC0.905)和脂肪量(敏感性84.62%;特异性75.00%;AUC0.837)。7例患者获得随访(2~9个月)。治疗前,这些患者的身体成分变化相互矛盾.
结论:手握力和FVC与身体成分密切相关。晚发性MADD的身体成分特征是脂肪积累,肌肉损失,体内总水分减少,和细胞内水的比例。身体成分特征对于诊断和评估是有价值的。
OBJECTIVE: This study aims to analyse the body composition features and its changes after treatment in patients with late-onset multiple acyl-CoA dehydrogenase deficiency (MADD).
METHODS: Body composition was measured in patients with late-onset MADD, inflammatory myopathies, mitochondrial myopathy, and healthy controls. The correlation analyses between body composition and traditional parameters were performed. Comparisons between groups and receiver operating characteristic curve analyses were performed.
RESULTS: A total of 42 participants included 13 patients with late-onset MADD, 13 healthy controls, 10 with inflammatory myopathy, and 6 with mitochondrial myopathy. Bilateral grip strength and forced vital capacity (FVC) were moderate-strong correlated with skeletal muscle mass (right hand grip strength: r = 0.728, P < 0.001; left hand grip strength: r = 0.676, P < 0.001; FVC: r = 0.754, P < 0.001). Serum CK was moderately and negatively correlated with right hand grip strength (r = - 0.618, P = 0.005), left hand grip strength (r = - 0.630, P = 0.004), FVC (r = - 0.665, P = 0.002), manual muscle testing (MMT) (r = - 0.729, P = 0.000), and lean body mass skeletal muscle percentage (r = - 0.501, P = 0.029). Body composition features in patients with late-onset MADD were as follows: (1) obvious fat accumulation, (2) reduction of muscle mass, and (3) reduction of body water and intracellular water ratio. Some indicators of body composition were found to be valuable in diagnosis and eliminating differential diagnoses, such as visceral fat area (sensitivity 84.62%; specificity 92.31%; AUC 0.905) and fat mass (sensitivity 84.62%; specificity 75.00%; AUC 0.837). Seven patients were followed-up (2-9 months). Prior to treatment, the changes in body composition in these patients were conflicting.
CONCLUSIONS: Hand grip strength and FVC were strongly associated with body composition. Body composition features in late-onset MADD are fat accumulation, muscle loss, decrease in total body water, and intracellular water ratio. Body composition features are valuable for diagnosis and assessment.