中文摘要：

采用基于核磁共振（NMR）的代谢组学方法，研究了家族性甲亢患者、非家族性甲亢患者和健康志愿者人群的血清和尿液的代谢差异．结果表明，家族性甲亢组血清样品中的乙酰乙酸、柠檬酸及牛磺酸等代谢物的浓度显著升高，超低密度脂蛋白、低密度脂蛋白、乳酸及甘氨酸等代谢物的浓度显著降低；尿样中的肌酐和葡萄糖的浓度显著升高，琥珀酸、苯乙酰甘氨酸及马尿酸等代谢物的浓度显著降低．以上结果表明家族性甲亢患者可能存在糖和脂类代谢的紊乱、肝脏和肾脏功能的损伤以及肠道环境的破坏等．此外，家族性甲亢组血清样品中的乙酰乙酸、葡萄糖、柠檬酸及肌酐等代谢物的浓度显著升高，表明家族性甲亢人群的肾脏功能受损更为严重，由此可区分家族性与非家族性甲亢的NMR代谢轮廓．

英文摘要：

Nuclear magnetic resonance （NMR） based on metabonomics was applied to study of the differences in endogenous metabolites on serum and urine samples from the familial hyperthyroidism group, non-familial hyperthyroidism group and control group using multivariate statistical analysis in this paper. The experimental results show that the familial hyperthyroidism group has significant difference with the non-familial hyperthy- roidism group and the control group. The familial hyperthyroidism group has elevated levels of acetoacetate, citrate and taurine, and has declined levels of very low density lipoprotein, low density lipoprotein, lactate and glycine in serum samples relative to the control group. In urine samples, the familial hyperthyroidism group show increased levels of glucose and creatinine as well as decreased levels of succinate, phenacetylglycine and hippurate. These results would lead to the disorder of carbohydrate and lipid metabolism, the injury of liver and kidney, cellular toxicity and the destruction of the intestinal environment. Furthermore, relative to the non-familial hyperthyroidism group, the familial hyperthyroidism has more significantly increased levels of the acetoacetate, glucose, citrate and creatinine in the serum. Therefore, the injury of kidney function and cell is more serious in familial hyperthyroidism group.