难治性肾病综合征患儿载脂蛋白E基因多态性的研究  

The apolipoprotein E gene polymorphism in children with steroid-resistant idiopathic nephrotic syndrome

作　　者：曾华松[1] 高岩[1] 徐家喻[2] 张小铃[2] 万根平[3] 陈峥嵘[4] 郭仁寿[5] 陈重义[5] 

机构地区：[1]广州市儿童医院暨广州医学院附属儿童医院肾内科,510120 [2]广州市儿童医院暨广州医学院附属儿童医院检验科,510120 [3]广州市儿童医院暨广州医学院附属儿童医院中心实验室,510120 [4]广州市儿童医院暨广州医学院附属儿童医院病理科,510120 [5]湖北医科大学附属第二医院儿科

出　　处：《中华医学遗传学杂志》2001年第4期289-291,共3页Chinese Journal of Medical Genetics

基　　金：广东省卫生科技基金 (B1 9991 50 ) &&

摘　　要：目的　研究难治性肾病综合征 (steroid- resistant idiopathic nephrotic syndrome,SRINS)患儿载脂蛋白 E基因多态性 ,为临床上正确选择合适的脂质代谢紊乱病例进行降脂治疗提供依据。方法　用酶法测定了 6 0例 SRINS患儿及 80例健康儿童血脂、脂蛋白、载脂蛋白 3种物质共 7个脂质代谢指标 ,用PCR- SSCP法检测载脂蛋白 E(apo E)基因型 ,并行肾穿刺活检术检查肾病综合征患儿病理类型。结果SRINS患儿存在明显脂质紊乱 ,与健康儿童比较差异有显著性 (P<0 .0 1) ,随诊半年后仍有绝大多数SRINS患儿存在明显脂质代谢紊乱。难治性肾病综合征 apoε2等位基因显著多于健康儿童 (P<0 .0 5 )。结论　 SRINS患儿脂质代谢紊乱持续的时间较长 ,这类患儿 ,尤其携带ε2等位基因者 ,更易发生进行性肾脏损害 ,动脉粥样硬化及冠心病。Objective: To study apolipoprotein E gene polymorphism in children with steroid-resistant idiopathic nephrotic syndrome (SRINS). Methods: Sixty children with SRINS (including 9 children with focal sclerosing glomerulonephritis) were observed in comparison with 80 age-sex-matched healthy children. Seven lipoprotein metabolism parameters including serum total-cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), apolipoprotein AI(apoAI), apolipoprotein B (apoB), lipoprotein (a)[Lp (a)] were detected by enzyme method, and single-strand conformation polymorphism (PCR-SSCP) was used to determine the apoE genotypes in the two groups. Results: Serum TC, TG, HDL-C, LDL-C, apoAI, apoB, Lp(a) in the observation group were significantly higher than those in the healthy controls (P<0.01). After 6 months, the levels of serum TC, TG, LDL-C, apoB, Lp(a) were 81.25%, 78.13%, 84.38%, 87.50% and 78.13% respectively in 32 SRINS cases of the observation group. The apo Ε2 allele gene frequence was higher in the observation group than in the controls (11.66%, vs 5.00%, P<0.05). The apo Ε2 allele gene frequence in the cases of focal sclerosing glomerulonephritis was significantly higher than that in the controls (22.22% vs 5.00%, P<0.01). Conclusion: The above results indicate the obvious and long term abnormalities of serum lipoprotein metabolism in the children with SRINS. The apo Ε2 allele gene frequence is higher in the children with SRINS. There are risk factors for atherosclerosis and cardiovascular diseases in the children with SRINS. The antilipemic drugs should be considered in use for the children with SRINS.

关 键 词：肾病综合征 高脂血症 肾脏病理 遗传多态性 载脂蛋白E 基因多态性 儿童 

分 类 号：R726.91[医药卫生—儿科]