Department of Pediatric Surgery, Post Graduate Medical Institute (PGIMER), Chandigarh 160012, India.
J Pediatr Urol. 2010 Dec;6(6):560-6. doi: 10.1016/j.jpurol.2010.01.002. Epub 2010 Feb 10.
To examine the association with renal damage in patients with posterior urethral valves (PUV) of two renin-angiotensin system gene polymorphisms: angiotensin converting enzyme insertion/deletion (ACE I/D) and angiotensin type 2 receptor (AT2R A1332G), PATIENTS AND METHODS: In 120 patients with PUV, after stabilization, transurethral fulguration or a Blocksom vesicostomy was performed. Records were reviewed for age at diagnosis, biochemical renal function at diagnosis, results of urine cultures, voiding cystourethrograms, radiologic, sonographic and nuclear medicine scan findings, and follow-up data. ACE I/D genotypes were determined by the polymerase chain reaction using allele specific primers.
The frequency of the ACE DD genotype was significantly higher in patients with chronic kidney disease (P=0.02) and renal scarring (P=0.05). These genotypes were also associated with a statistically higher incidence of vesicoureteral reflux, diurnal incontinence, proteinuria and hypertension. A significantly higher frequency of the AT2R GG genotype was found in PUV patients as compared to healthy unrelated control subjects (P=0.001), and in PUV patients with scarring (P=0.02).
The ACE DD and AT2R GG genotypes are associated with chronic kidney disease and scarring in PUV patients. The GG genotype incidence is higher among PUV patients compared to the control population, and further studies in this area may help understanding of the genetic basis of PUV.
探讨血管紧张素转换酶插入/缺失(ACE I/D)和血管紧张素Ⅱ受体(AT2R A1332G)两种肾素-血管紧张素系统基因多态性与后尿道瓣膜(PUV)患者肾损伤的关系。
对 120 例 PUV 患者进行经尿道电灼或膀胱造瘘术,稳定后进行研究。回顾分析患者的诊断年龄、诊断时的生化肾功能、尿培养结果、排尿性膀胱尿道造影、放射学、超声和核医学扫描结果及随访资料。采用聚合酶链反应和等位基因特异性引物确定 ACE I/D 基因型。
慢性肾脏病(P=0.02)和肾瘢痕(P=0.05)患者 ACE DD 基因型的频率明显较高。这些基因型与膀胱输尿管反流、日间遗尿、蛋白尿和高血压的发生率也有统计学上的显著相关性。与健康无关的对照组相比,PUV 患者 AT2R GG 基因型的频率明显更高(P=0.001),且在有瘢痕的 PUV 患者中(P=0.02)也更高。
ACE DD 和 AT2R GG 基因型与 PUV 患者的慢性肾脏病和瘢痕形成有关。与对照组相比,GG 基因型在 PUV 患者中的发生率更高,进一步的研究可能有助于了解 PUV 的遗传基础。