KCNJ5突变与单侧原发性醛固酮增多症术后临床缓解的相关性研究

Correlation between KCNJ5 mutation and postoperative clinical remission of unilateral primary aldosteronism

目的:研究KCNJ5基因突变与单侧原发性醛固酮增多症(primary aldosteronism,PA)术后临床缓解的相关性。方法:回顾性分析2019年8月—2021年8月山西白求恩医院110例单侧PA患者的临床资料,并进行腺瘤组织中KCNJ5基因的外显子扩增与测序,以确定KCNJ5基因突变与患者临床特征的相关性。所有患者均行腹腔镜肾上腺肿瘤切除术。结果:110例患者中有65例(59.1%)发现了KCNJ5基因突变。所有患者术后1年内均获得生化完全缓解,其中60例(54.5%)获得临床完全缓解。与未突变组相比,KCNJ5基因突变组的PA患者发病年龄更小(P=0.030)、高血压持续时间更短(P=0.046)、肿瘤直径更大(P=0.049)、术前血钾更低(P=0.025)、术前醛固酮/肾素比值(aldosterone-renin ratio,ARR)更高(P=0.042)。与未获得临床完全缓解的患者相比,临床完全缓解的患者发生KCNJ5基因突变的比例更高(P<0.001)、年龄更小(P=0.001)、高血压持续时间更短(P<0.001)、术前血浆醛固酮浓度(plasma aldosterone concentration,PAC)的水平更高(P=0.022)、术前ARR更高(P=0.002)。多因素logistic回归分析结果显示,KCNJ5基因突变(OR=4.850,P=0.001)和高血压持续时间(OR=0.692,P=0.018)是术后获得临床完全缓解的独立影响因素。结论:KCNJ5基因突变和高血压持续时间是单侧PA患者术后获得临床完全缓解的独立预测因素。

Objective To explore the correlation between KCNJ5 mutations and postoperative clinical remission of unilateral primary aldosteronism(PA).Methods The clinical data of 110 patients with unilateral PA at Shanxi Bethune Hospital from August 2019 to August 2021 were retrospectively analyzed.The exons of KCNJ5 gene in adenoma tissues were amplified and sequenced to determine the correlation between KCNJ5 mutation and clinical features of patients before and after unilateral adrenalectomy.Laparoscopic adrenalectomy was performed in all PA patients.Results KCNJ5 mutations were identified in 65 of 110 patients with PA(59.1%).Complete biochemical remission was achieved in all patients within 1 year after adrenalectomy,among which 60(54.5%)achieved complete clinical remission.Compared with the KCNJ5 wild type group,patients harbouring KCNJ5 mutations had younger age(P=0.030),shorter duration of hypertension(P=0.046),larger tumor(P=0.049),lower preoperative serum potassium(P=0.025)and higher preoperative aldosterone-renin ratio(ARR)(P=0.042).Complete clinical remission patients presented the following characteristics:KCNJ5 mutation(P<0.001),younger age(P=0.001),shorter duration of hypertension(P<0.001),higher preoperative plasma aldosterone concentration(P=0.022)and higher preoperative ARR(P=0.002).Multivariate logistic regression analysis showed that KCNJ5 mutation(OR=4.850,P=0.001)and duration of hypertension(OR=0.692,P=0.018)were independent factors for complete clinical remission.Conclusion KCNJ5 mutation and duration of hypertension are independent predictors of complete clinical remission after unilateral adrenalectomy in patients with unilateral PA.