Tsai I-Jung, Yang Yao-Hsu, Lin Yen-Hung, Wu Vin-Cent, Tsau Yong-Kwei, Hsieh Fon-Jou
Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
Am J Nephrol. 2006;26(2):157-62. doi: 10.1159/000092982. Epub 2006 Apr 25.
To investigate the genetic polymorphism of angiotensin-converting enzyme (ACE) insertion/deletion (I/D) in children with idiopathic nephrotic syndrome (INS), as well as its relationship with patient's clinical response to steroid therapy.
Fifty-nine patients with INS were recruited and divided into 2 groups according to their clinical response to steroids: steroid-sensitive (SS) with 19 patients and non-SS with 40 patients, which was further divided into steroid-dependent (SD) and steroid-resistant (SR) groups with 35 and 5 patients, respectively. Seventy-nine children without previous renal diseases and negative proteinuria were enrolled as a control group. The genotypes for ACE I/D polymorphism, including DD, ID, and II, were analyzed.
The distribution of ACE DD, ID, and II genotypes in INS patients were 52.5, 10.2 and 37.3%, respectively; the corresponding numbers for the control group were 2.5, 25.3 and 72.2%, respectively. Patients with INS had a significantly higher percentage of DD genotype (p <0.001) than the control group. This higher incidence of the DD genotype was observed in both the SS and non-SS groups. A higher percentage of the DD genotype in the non-SS group and in the SD group as compared to the SS group (both p < 0.05) was also noted.
Our data shows that INS is associated with a higher incidence of the DD genotype, especially in non-SS patients. This finding suggests that the DD genotype may be a risk factor for INS and play a role in the clinical response to steroids.
研究特发性肾病综合征（INS）患儿血管紧张素转换酶（ACE）插入/缺失（I/D）基因多态性及其与患者对类固醇治疗临床反应的关系。
招募59例INS患者，根据其对类固醇的临床反应分为2组：类固醇敏感（SS）组19例，非SS组40例，后者又进一步分为类固醇依赖（SD）组35例和类固醇抵抗（SR）组5例。纳入79例既往无肾脏疾病且蛋白尿阴性的儿童作为对照组。分析ACE I/D基因多态性的基因型，包括DD、ID和II。
INS患者中ACE DD、ID和II基因型的分布分别为52.5%、10.2%和37.3%；对照组相应的数字分别为2.5%、25.3%和72.2%。INS患者的DD基因型百分比显著高于对照组（p<0.001）。在SS组和非SS组中均观察到DD基因型的较高发生率。与SS组相比，非SS组和SD组中DD基因型的百分比更高（均p<0.05）。
我们的数据表明，INS与DD基因型的较高发生率相关，尤其是在非SS患者中。这一发现表明DD基因型可能是INS的一个危险因素，并在对类固醇的临床反应中起作用。
