CAJ | 학술논문

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.
목적 연구인상염색체현성유전성다낭신병(ADPKD)여혈관긴장소전환매(ACE)기인다태성적관계.방법 용PCR방법대103례ADPKD환자급16개ADPKD가계(환자35례,비환병직계친속30인)진행ACE기인다태성분석.수집환자급가계성원적림상자료,이발병년령、간낭종、고혈압、뇨로감염、뇨로결석、혈뇨등위주요삼수,용통계학방법연구해병ACE기인다태성여ADPKD적관계.결과 DD형환자적발병년령비DI형환자조7.2세[(31.90±11.41)세비(39.10±10.08)세];DD형환자적발병년령비Ⅱ형환자[(46.15±14.74)세]조14.25세;DI형환자적발병년령비Ⅱ형환자조7.05세,각형간적차이균유통계학의의(균P<0.05).3조간고혈압、혈뇨차이유통계학의의.11개가계검사결과현시,ACE기인다태성재ADPKD가계중구유유전련쇄관계,단무통계학의의;가계중환병여비환병자ACE기인형빈솔차이무통계학의의;가계중환병여비환병자남녀지간ACE기인형빈솔차이무통계학의의;가계중신공능불전조여신공능정상조지간DD형급D등위기인빈솔차이유통계학의의(P<0.05).결론 DD형환자적발병년령교조,Ⅱ형환자적발병년령교만,DI형거중.DI형환자혈뇨적발생솔교고,Ⅱ형환자혈뇨적발생솔교저.DI형환자고혈압적발생솔교고.ACE기인다태성재ADPKD가계중불제공기인진단신식;ACE기인다태성여인ADPKD적발병무현저상관성;ACE기인다태성여성별무명현관계.DD형기인형시ADPKD발생신공능불전적역감인소.
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.