醛固酮瘤内外KCNJ5基因G151R L168R变异及钠钙交换体-1表达的分析  

Analysis ofvariation of G151R and L168R of KCNJ5 gene and expression of sodium-calcium exchange 1 in aldosterone tumor or peritumoral tissues

作　　者：王梦卉[1] 彩丽[1] 吴婷[1] 骆秦[1] 张玮玮[1] 周克明[1] 王国亮[1] 赵建雯 张智华 李南方[1] WANG Menghui;CAI Li;WU Ting(Hypertension Center of People’s Hospital of Xinjiang Uygur Autonomous Region,Urumqi 830001,China)

机构地区：[1]新疆维吾尔自治区人民医院(新疆高血压研究所/国家卫生健康委高血压诊疗研究重点实验室)高血压中心,新疆乌鲁木齐830001

出　　处：《安徽医学》2021年第11期1215-1219,共5页Anhui Medical Journal

基　　金：新疆维吾尔自治区自然科学基金计划基金项目(项目编号:2018D01C096)。

摘　　要：目的高血压合并肾上腺醛固酮瘤(APA)患者瘤组织、瘤旁组织中KCNJ5基因G151R、L168R位点变异情况及钠钙交换体1(NCX1)表达的特征分析。方法回顾性分析2016年8月至2017年8月就诊于新疆维吾尔自治区人民医院高血压科,经肾上腺肿瘤切除术后病理证实的35例APA患者,收集患者手术前后的临床数据;采用聚合酶链式反应扩增及测序方法明确瘤体内及瘤旁组织的KCNJ5基因G151R、L168R位点变异类型;采用蛋白质免疫印迹技术检测9例患者APA瘤内及瘤旁组织中NCX1/β-actin表示NCX1的相对表达水平。结果35例APA患者治疗后收缩压[术前(146±18)mmHg比术后(125±8)mmHg],舒张压[术前(98±14)mmHg比术后(85±8)mmHg]、血浆醛固酮浓度[术前18.03(12.61,36.65)ng/dL比术后14.19(11.29,18.26)ng/dL]均较治疗前降低,血清钾[术前(3.44±0.37)mmol/L比术后(3.91±0.16)mmol/L],血浆肾素活性[术前0.42(0.24,0.69)ng/(mL·h)比术后2.00(1.91,2.09)ng/(mL·h)],均较治疗前升高。瘤内与瘤旁组织KCNJ5基因G151R、L168R位点基因型一致;APA瘤内NCX1/β-actin为0.133(0.128,0.047);而在瘤旁组织中NCX1/β-actin为0.016(0.002,0.022)。结论APA患者手术治疗后各项指标趋于好转,瘤内及瘤旁组织的KCNJ5基因G151R、L168R位点基因型一致;NCX1在APA瘤体内有表达,瘤旁组织中表达不明显。Objective To investigate the expression of sodium-calcium exchange r 1(NCX1)in tumor or peritumoral tissues of hypertensives with aldosterone-production adenoma(APA),and to determine the relationship with NCX1 and the different mutation sites of KCNJ5.Methods We reviewed retrospectively 35 APA patients admitted to the Department of Hypertension of the People’s Hospital of Xinjiang Uygur Autonomous Region between August 2016 to August 2017,who were pathologically confirmed APA after adrenal tumor removed.After performing the inclusion or exclusion criteria,9 APA patients were determined G151R and L168R variants of KCNJ5 gene in tumor and peritumoral tissues by polymerase chain reaction sequencing,and their relative expression level of NCX1 was determined by the ratio of NCX1/β-actin by Western blot.Results After adrenalectomy,in 35 APA patients,systolic blood pressure[preoperative(146±18)mmHg vs.postoperative(125±8)mmHg],diastolic blood pressure[preoperative(98±14)mmHg vs.postoperative(85±8)mmHg],and plasma aldosterone concentration[preoperative 18.03(12.61,36.65)ng/dL vs.postoperative 14.19(11.29,18.26)ng/dL significantly changed.]Both serum potassium[preoperative(3.44±0.37)mmol/L vs.postoperative(3.91±0.16)mmol/L]and plasma renin activity[preoperative 0.42(0.24,0.69)ng/(mL·h)vs.2.00(1.91,2.09)ng/(mL·h)were higher than those before operation.]The genotypes of KCNJ5 gene G151R and L168R were consistent between tumor and peritumoral tissues.NCX1/β-actin was 0.133(0.128,0.047)in tumor tissues and 0.016(0.002,0.022)in peritumoral tissues.Conclusions APA patients tend to improve after surgical treatment.The variations of G151R and L168R of KCNJ5 gene in APA tumor and peritumoral tissues are consistent.NCX1 is definitely expressed in APA tumors,but relative low level in peritumoral tissues.

关 键 词：醛固酮瘤 钠钙交换体 KCNJ5 

分 类 号：R544.1[医药卫生—心血管疾病] R586.24[医药卫生—内科学]