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目的 探讨血管紧张素I转换酶 (ACE)基因多态性在儿童原发性肾病综合征 (PNS)中的作用。方法 PNS76例 ,施行了肾穿刺活检术 4 9例 ,对照组为健康儿童 5 0例 ,检测ACE基因和血清ACE水平。结果 ACE基因多态性在PNS单纯型和肾炎型组、频复发组和非频复发组、肾上腺皮质激素 (激素 )效应组与对照组一样 ,以插入型 (II基因型 )分布频率高 ;耐药组和肾活检病例尤其局灶性节段性肾小球硬化 (FSGS)明显显示缺失型 (DD基因型 )和D等位基因占优势 ,临床耐药的肾活检病例也以DD型和D等位基因明显占优势。PNS和对照组的血ACE水平由高至低排列的基因型依次是DD型、ID型和II型 ;PNS治疗前ACE(85 6 6 7± 17 90 7)U/L ,与对照组 (6 0 13± 2 1 4 1)U/L比较 ,t =- 2 5 96 ,P <0 0 5 ,差异有显著性 ;激素治疗 1周血ACE(4 5 375±18 35 3)U/L ,治疗 4周血ACE(2 8 6 6 7± 7 6 33)U/L ,治疗前后比较 χ2 =12 ,P <0 0 5 ,差异有显著性。结论 D等位基因影响了PNS治疗的反应性 ;D等位基因的血ACE水平高于I等位基因 ,ACE基因在一定程度上调控了血ACE水平 ;激素可降低血ACE水平。
Objective To investigate the role of angiotensin I converting enzyme (ACE) gene polymorphism in children with primary nephrotic syndrome (PNS). Methods 76 cases of PNS were performed renal biopsy in 49 cases, the control group of healthy children 50 cases, ACE gene and serum ACE levels were measured. Results ACE gene polymorphism in the PNS simplex and nephritis group, frequency recurrence group and non-frequency recurrence group, adrenal corticosteroid (hormone) effect group and control group, insert type (II genotype) distribution frequency is high; Drug group and renal biopsy cases, especially focal segmental glomerulosclerosis (FSGS) clearly showed deletion type (DD genotype) and D allele predominance, clinical resistance of the renal biopsy cases also DD and D The allele clearly dominates. The genotypes with high to low blood ACE levels in PNS and control groups were DD type, ID type and II type in sequence; ACE (85 6 6 7 ± 17 90 7) U / L before PNS and control group 0 13 ± 2 1 4 1) U / L, t = - 2 5 96, P <0 0 5, the difference was significant; hormone treatment of 1 week of blood ACE (45 375 ± 18 35 3) U / L, After 4 weeks of treatment, blood ACE (2 8 6 6 7 ± 7 6 33) U / L, before and after treatment compared χ 2 = 12, P <0 05, the difference was significant. Conclusion The D allele affected the responsiveness of PNS treatment. The blood ACE level of D allele was higher than that of I allele. ACE gene regulated the blood ACE level to a certain extent. Hormone reduced blood ACE level.