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目的探讨血管紧张素转化酶(ACE)基因插入(I)/缺失(D)多态性与儿童急性链球菌感染后肾小球肾炎(APSGN)的易感性与临床特点的相关性。方法以北京儿童医院2006—2007年APSGN患儿58例为受试者,以100名健康儿童作为对照。采用盐析法提取基因组DNA,并通过2次PCR检测ACE(I/D)基因多态性,同时检测APSGN患儿肾功能、补体C3、血清ACE浓度、24h尿蛋白,同时检查胸片、心脏彩超。结果APSGN组DD基因型频率和D等位基因频率明显高于对照组(41.4%vs 22.0%,P<0.05;54.3%vs 43.0%,P<0.05)。APSGN患儿D等位基因频率在有蛋白尿组明显高于无蛋白尿组(62.5%vs 42.9%,P=0.047;81.8%vs50.0%,P=0.018)。ACE(I/D)基因多态性与APSGN的发病年龄、性别、血尿、高血压、补体C3水平、并发症比较,均无明显统计学意义。结论ACE-D等位基因与APSGN的遗传易感性及蛋白尿的发生存在相关,可能与该病的预后有一定关系。
Objective To investigate the relationship between the polymorphism of angiotensin I converting enzyme (ACE) gene insert (I) / deletion (D) and the susceptibility and clinical features of glomerulonephritis (APSGN) after acute streptococcal infection in children. Methods Fifty-eight children with APSGN from 2006 to 2007 in Beijing Children’s Hospital were enrolled. One hundred healthy children were used as control. The genomic DNA was extracted by salting-out method and the ACE gene polymorphism was detected by 2 times PCR. The renal function, complement C3, serum ACE and 24h urinary protein in children with APSGN were detected at the same time. Color ultra. Results The frequencies of DD genotype and D allele in APSGN group were significantly higher than those in control group (41.4% vs 22.0%, P <0.05; 54.3% vs 43.0%, P <0.05). The frequency of D allele in children with APSGN was significantly higher in patients with proteinuria than in those without proteinuria (62.5% vs 42.9%; P = 0.047; 81.8% vs 50.0%, P = 0.018). ACE (I / D) gene polymorphism and APSGN age, gender, hematuria, hypertension, complement C3 levels, complications were not statistically significant. Conclusion There is a correlation between the ACE-D allele and the genetic susceptibility to APSGN and the occurrence of proteinuria, which may be related to the prognosis of the disease.