目的：对原发性脂肪肝（PFLD）患者及健康对照的一级亲属中PFLD发生情况、胰岛素抵抗（HOMA-IR）指数以及其他相关代谢指标的测定，了解PFLD是否有家族集聚现象及IR在其发病中的可能作用。方法：PFLD的诊断依据B超为脂肪肝并排除继发性原因。PFLD家系组（A组）共42例，11个家庭。选取与A组年龄、性别构成及生活方式和经济状况相近的健康志愿者家系为对照组（B组）共14例，4个家庭。所有受试者均进行身高、体重、腰围、血压等测定，行糖耐量试验、胰岛素及血脂质等检测，并对受试者的生活方式及文化程度和经济状况行量化打分。结果：A组PFLD 33例（78.57%，A1组），无脂肪肝9例（A2组），说明有家族集聚现象。与B组相比，A1组的体重指数、腰围、舒张压、血总胆固醇和HOMA-IR指数显著高于B组（P＜0.05）；血高密度脂蛋白胆固醇（HDL-C）显著低于B（P＜0.05）；A2组的各项指标与B组相比差异无统计学意义，但变化趋势呈现出腹型肥胖、IR、代谢紊乱和血压偏高；而A1组及A2组与B组的生活方式及经济状况无明显差异。结论：PFLD具有较强的家族聚发现象，其IR程度显著高于对照组；家族中无脂肪肝者存在IR相关的代谢紊乱趋势。说明某种内在或遗传因素如IR可能与PFLD发病有关。
【摘要】 目的 调查成都地区2型糖尿病患者糖耐量正常一级亲属的代谢状态及与胰岛素抵抗、胰岛β细胞功能的相关性。 方法 2007年7-9月共纳入糖耐量正常的一级亲属312例（NGT-FDR组），无家族史的正常对照1 348例（NGT-C组）。测量两组血压、体重、腰围；检测口服葡萄糖耐量试验（OGTT）中0、0.5、2 h血糖、胰岛素水平；测定空腹血脂；计算体重指数、HOMA-胰岛素抵抗指数（HOMA-IR）、胰岛β细胞功能指数（HOMA-β），β细胞早相分泌功能指数（△I30/△G30），并比较两组间上述指标的差异和代谢综合征（MS）及其各组分的发病情况。 结果 ①NGT-FDR组MS发生率高于NGT-C组，发生MS的风险是后者的1.737倍。NGT-FDR组高甘油三酯血症（hypertriglyceridemia，HTG）、空腹血糖偏高（5.6~6.0 mmol/L）的发生率高于NGT-C组，合并4种及以上代谢异常的几率亦高于NGT-C组（Plt;0.05）；②年龄lt;40岁的NGT-FDR中心性肥胖、HTG、空腹血糖偏高和MS均高于同年龄对照；男性NGT-FDR空腹血糖偏高和MS发病率高于男性对照（Plt;0.05）；③腰围、收缩压（SBP）、空腹血糖（FBG）、甘油三酯（TG）及糖尿病家族史同HOMA-IR呈正相关。腰围、SBP、TG及糖尿病家族史同HOMA-β呈正相关，FBG则同HOMA-β呈负相关。 结论 2型糖尿病糖耐量正常一级亲属比无家族史的对照表现出更多的代谢异常，尤其是在年龄lt;40岁及男性中。各种代谢异常可加重胰岛素抵抗，影响胰岛基础分泌功能。故有必要对糖耐量正常的一级亲属进行各项代谢指标的监测和早期预防性干预。【Abstract】 Objective To investigate the metabolic status of the normal glucose-tolerant first-degree relatives (NGT-FDR) of type-2 diabetic patients and its relationship with insulin resistance (IR) and β-cell function in Chengdu area. Methods From July to September 2007, a total of 312 NGT-FDR of type-2 diabetic patients and 1 348 normal glucose tolerant controls without positive family history of diabetes (NGT-C) were enrolled in this study. Blood pressure, weight, waists, plasma glucose at hour 0, 1/2 and 2 in oral glucose tolerance test (OGTT), insulin levels and fasting blood lipids were measured. Body mass index (BMI), HOMA-IR, HOMA-β and the early insulin secreting index (△I30/△G30) were calculated. Then, we compared the above-mentioned data and the incidence of metabolic syndrome (MS) between the two groups. Results ①The incidence of MS, hypertriglyceridemia (HTG), higher fasting blood glucose (FBG) (5.6-6.0 mmol/L) in the NGT-FDR group were all significantly higher than those in the NGT-C group. The risk of developing MS in the NGT-FDR group was 1.737 times as high as that in the NGT-C group. Furthermore, the incidence of 4 or more than 4 co-existent metabolic disorders in the NGT-FDR group was also significantly higher than that in the NGT-C group (Plt;0.05); ②For subjects less than 40 years old, the incidence of central obesity, HTG, higher FBG and MS in the NGT-FDR group were all higher than those in the NGT-C group. In male subjects, the rates of higher FBG and MS were all significantly higher in the NGT-FDR group than those in the NGT-C group. (Plt;0.05); ③Waists, FBG, systolic blood pressure (SBP), triglycerides (TG) and diabetic family history were positively correlated with HOMA-IR. Waists, SBP, TG and diabetic family history were positively correlated with HOMA-β. Conclusion NGT-FDR present significantly increased metabolic disorders than NGT controls, especially in the less than 40-year-old and the male subjects. The metabolic disorders can aggravate insulin resistance and influence islet β-cell secretion function, so it is necessary to monitor the metabolic status of the NGT-FDR of type-2 diabetic patients and provide early preventive interventions.