常染色体显性遗传性多囊肾病患者与血管紧张素转换酶基因多态性的关系

目的 研究人常染色体显性遗传性多囊肾病（ADPKD）与血管紧张素转换酶（ACE）基因多态性的关系。 方法 用PCR方法对103例ADPKD患者及16个ADPKD家系（患者35例，非患病直系亲属30人）进行ACE基因多态性分析。收集患者及家系成员的临床资料，以发病年龄、肝囊肿、高血压、尿路感染、尿路结石、血尿等为主要参数，用统计学方法研究该病ACE基因多态性与ADPKD的关系。 结果 DD型患者的发病年龄比DI型患者早7.2岁[（31.90±11.41）岁比（39.10±10.08）岁]；DD型患者的发病年龄比Ⅱ型患者[（46.15±14.74）岁]早14.25岁；DI型患者的发病年龄比Ⅱ型患者早7.05岁，各型间的差异均有统计学意义（均P ＜ 0.05）。3组间高血压、血尿差异有统计学意义。11个家系检查结果显示，ACE基因多态性在ADPKD家系中具有遗传连锁关系，但无统计学意义；家系中患病与非患病者ACE基因型频率差异无统计学意义；家系中患病与非患病者男女之间ACE基因型频率差异无统计学意义；家系中肾功能不全组与肾功能正常组之间DD型及D等位基因频率差异有统计学意义（P ＜ 0.05）。 结论 DD型患者的发病年龄较早，Ⅱ型患者的发病年龄较晚，DI型居中。DI型患者血尿的发生率较高，Ⅱ型患者血尿的发生率较低。DI型患者高血压的发生率较高。ACE基因多态性在ADPKD家系中不提供基因诊断信息； ACE基因多态性与人ADPKD的发病无显著相关性；ACE基因多态性与性别无明显关系。DD型基因型是ADPKD发生肾功能不全的易感因素。

Association between polymorphism of angiotensin converting enzyme gene and autosomal dominant polycystic kidney disease

Objectve To investigate the association between insertion/deletion (I/D) polymorphism of angiotensin converting enzyme (ACE) gene and autosomal dominant polycystic kidney disease (ADPKD). Methods Polymorphism of ACE gene was analyzed by polymease chain reavtion (PCR) in 103 ADPKD patients and 16 ADPKD family constellations including 35 patients and 30 non-ill people. Clinical data were collected and age of onset, hepatocyst, hypertension, urinary tract infecton, urinary concretion, hematuria were used as the main parameters to analyze the association between ACE gene polymorphism and ADPKD. Results The age of onset in DD genotype was 7.2 years younger than that in DI genotype [(31.90±11.41) vs (39.10±10.08) years, P<0.05] and was 14.25 years younger than that in Ⅱ gene type [(31.90±11.41) vs(46.15±14.74) years, P<0.05]. The age of onset in I/D genotype was 7.05 years younger than that in Ⅱ genotype [(39.10±10.08) vs (46.15±14.74) years, P<0.05]. There were significance differences of main clinical symptoms (hypertension, hematuria and urinary tract infection) among three genotype groups. In 11 family constellations, ACE gene polymorphism presented genetic linkage, but without significant difference (P>0.05); the genotype distribution was not significantly different between ADPKD and non-ill people (P>0.05), as well as between man and woman (P>0.05); the DD genotype frequency was significantly higher in ADPKD patients with chronic renal failure (P<0.05). Conclusions The age of onset in DD gentype is the youngest among three groups. The incidence of hypertension and hematuria in DI genotype is the highest. The ACE gene polymorphism in ADPKD family constellation does not provide diagnosis information. The ACE gene I/D polymorphism may not contribute to ADPKD. The DD genotype of ACE may be a risk factor of renal failure in the ADPKD.