儿童原发性肾病综合征血管紧张素I转换酶基因多态性研究

Angiotensin 1-converting enzyme gene polymorphism in children with primary nephritic syndrome.

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 1-converting enzyme(ACE) gene polymorphism in children with primary nephritic syndrome(PNS). Methods\ The ACE genotype and serum levels were detected in 76 PNS(49 cases had renal biopsy) and 50 healthy controls. Results\ The genotype distribution showed no difference between simple PNS and nephritic nephrosis, frequent relapse group and non-frequent relapse group, steroid-sensitive and resistant group. DD genotype and D allele showed obvious dominance in drug-resistant group and cases performed with renal biopsy,especially those with focal segmental glomerular sclerosis(FSGS).The serum levels of ACE from high to low were genotypes DD ID and II. The serum levels of ACE before treatment in PNS children was(85 667±17 907)U/L, which showed significant difference (t=-2 596,р<0 05) when compared with healthy controls (60 13±21 41)U/L. After 1 week treatment with steroid, the serum levels of ACE was (45 375±18 353)U/L and after 4 weeks (28 667±7 633)U/L. There was significant difference(χ 2 =12, P<0 05) between the levels. Conclusions\ D allele affects the treatment for PNS, and the ACE concentration of D allele cases are higher than I allele cases. ACE gene polymorphism controls the serum levels of ACE to some extent. Steroid can decrease the serum ACE level in PNS cases.