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目的 研究原发性肾病综合征 (INS)患儿血浆载脂蛋白E(ApoE)基因多态性分布及对血脂代谢的影响。方法 选择 2 0 0 0年 1月至 2 0 0 3年 9月潍坊市人民医院收治的 5 2例INS患儿 ,并选择 6 9名健康儿童作为对照组 ,测定其血清胆固醇 (TC)、甘油三酯 (TG)、高密度脂蛋白 (HDL)、低密度脂蛋白 (LDL)、载脂蛋白AI及载脂蛋白B10 0 (ApoAI,ApoB10 0 )水平 ,用聚合酶链反应 限制性片段长度多态性 (PCR RFLP)检测ApoE基因型。结果 与对照组相比 ,INS患儿血清TC、TG、LDL、HDL、ApoAI和ApoB10 0水平增高 (P <0 0 1) ;其Apoε等位基因频率分布不均 ,ε2、ε3、ε4等位基因携带者的TC、TG、ApoB10 0水平差异有显著性意义 (P <0 0 5 )。与ε3等位基因携带者相比 ,ε2携带者TG水平较高 ,LDL水平较低 (P <0 0 5 ) ;ε4携带者TC水平较高 ,TG水平较低 (P <0 0 5 )。ε2、ε3、ε4等位基因与TC、LDL浓度呈正相关 (P <0 0 5 )。难治性肾病综合征 (RNS)患儿Apoε2等位基因频率较对照组显著增高 (P <0 0 5 )。结论 INS患儿Apoε等位基因频率分布与对照组无差异 ,RNS患儿Apoε2等位基因频率显著增高 ,脂质代谢紊乱持续存在 ,易发生肾脏损害 ,应及早加用降血脂药物治疗。
Objective To study the distribution of plasma apolipoprotein E (ApoE) gene polymorphism and its effect on blood lipid metabolism in children with primary nephrotic syndrome (INS). Methods Fifty-two infants with INS admitted to Weifang People’s Hospital from January 2000 to September 2003 were enrolled in this study. Sixty-nine healthy children were selected as control group. The levels of serum cholesterol (TC), glycerol Triglyceride (TG), high density lipoprotein (HDL), low density lipoprotein (LDL), apolipoprotein AI and apolipoprotein B10 0 (ApoAI, ApoB10 0) were detected by polymerase chain reaction restriction fragment length ApoE genotypes were detected by PCR RFLP. Results Compared with the control group, the levels of TC, TG, LDL, HDL, ApoAI and ApoB10 0 in children with INS were significantly higher than those in the control group (P <0.01). The Apo allele frequencies were unevenly distributed and the ε2, ε3 and ε4 There were significant differences in TC, TG and ApoB10 0 levels between carriers of gene carriers (P <0.05). Compared with carriers of ε3 allele, ε2 carriers had higher TG level and lower LDL level (P <0.05); ε4 carriers had higher TC level and lower TG level (P <0.05). The ε2, ε3 and ε4 alleles were positively correlated with TC and LDL (P <0.05). The frequency of Apoε2 alleles in children with refractory nephrotic syndrome (RNS) was significantly higher than that in the control group (P <0.05). Conclusions The frequency of Apo allele in children with INS is similar to that in control group. The frequency of allele Apoε2 in children with RNS is significantly higher than that in control group. The disorder of lipid metabolism persists. Kidney damage is easy to occur and should be treated with hypolipidemic drugs as early as possible.