家族性2型糖尿病遗传方式及血糖血脂代谢的研究

目的 :探索家族性 2型糖尿病的遗传方式及家族性 2型糖尿病家系一级亲属正常糖耐量同胞的血糖血脂代谢变化。方法 :按WHO1980标准 ,收集江苏苏南地区 2型糖尿病多发家系 99个 ,进行 3代家族史和血统成员的调查研究。检查血糖、血脂、葡萄糖耐量及胰岛素C肽释放试验。在排除糖尿病和糖耐量减低 (IGT)的前提下 ,选择先证者的正常糖耐量同胞为观察组 (5 4例 ) ,同胞的正常配偶为对照组 (5 6例 ) ,进行血糖血脂代谢分析。结果 :先证者的同胞患病率为 46 7%。同胞患病率是其配偶的 6.6倍 ;而同胞及其配偶的IGT患病率均为 11%左右。病系谱分析显示 ,至少双亲之一为糖尿病患者的家系达5 0 .5 % ,先证者同胞患糖尿病者达 1/ 2。与配偶组比较同胞的TG、LDL水平升高 ,空腹血糖升高 ,而胰岛素、C肽水平无差异。结论 :有家族史的 2型糖尿病患者有明显的家族聚集性 ,其发病与遗传密切相关 ,其遗传方式不完全支持多基因遗传 ,而支持孟德尔的常染色体显性遗传。同胞在糖耐量正常的情况下血糖、血脂已开始变化 ,对该糖尿病高危人群应进行血糖血脂监测以利早期防治。

THE INHERITANCE MODE AND STUDY ON THE METABOLISM OF GLUCOSE AND LIPID IN FAMILIAL TYPE 2 DIABDTES

Objective:To investigate the inheritance mode of familial type 2 diabetes and to study the changes of blood glucose and lipid levels in normal siblings.Methods:According to WHO 1980 criteria,99 type 2 diabetes probands with family history of diabetes for generations were recruited from South Jiangsu Province.The survey includes tests of blood glucose,lipids,OGTT,insulin,and C-peptide,etc.The observation group comprised 54 first-degree siblings with normal glucose tolerance (NGT).The control group comprised 56 NGT spouses of siblings.Blood glucose and lipid levels were compared between the two groups.Results:The prevalence of diabetes in the siblings were 46.76%,which is 6 6 times of the spouse group,while the prevalence of impaired glucose tolerance (IGT) is about 11% in both groups.50 5% affected families had at least one diabetic parent and half of the siblings had diabetes.TG,LDL,and FBG levels in normal glucose tolerance siblings of type 2 diabetes families were higher than those of the controls without changes of insulin and C-peptide levels.Conclusion:Familial type 2 diabetes had a familial aggregation.It was not inherited in the manner fully as polygene inheritance,butir seems to be of Mendelian autosomal dominant inheritance.Glucose and lipid abnormalities may be present in NGT relatives of familial type 2 diabetes, and blood glucose and lipid monitoring are important for the early prevention and treatment of diabetes for this subjects.