KCNJ5体细胞突变与单侧原发性醛固酮增多症患者术后临床缓解有关

Somatic mutation of KCNJ5 is associated with hypertension remission after adrenalectomy in patients with unilateral primary aldosteronism

在获得J Clin Endocrinol Metab的版权后,本文对该刊发表于2019年10月的文章进行中文编译[Leticia A,et al.KCNJ5 somatic mutation is a predictor of hypertension remission after adrenalectomy for unilateral primary aldosteronism.J Clin Endocrinol Metab,2019,104(10):4695-4702]。这一回顾性研究旨在探讨影响单侧原发性醛固酮增多症(原醛症)患者术后临床缓解的因素。根据原发性醛固酮增多症手术结局(PASO)标准,该研究纳入了100例术后获得完全生化缓解的单侧原醛症患者,其中76例患者完成KCNJ5体细胞突变测序。术后随访表明,100例患者中37例(37%)获得完全临床缓解。基因测序显示KCNJ5体细胞突变比例为43.4%(33/76)。与术后未获得完全临床缓解的患者相比,完全临床缓解组中女性更多(73%对47.6%,P=0.042)、术前使用3种以下降压药的患者比例更高(48.6%对15.9%,P<0.001),高血压病程小于10年的患者比例更高(64.9%对39.7%,P=0.015)。与无KCNJ5突变组相比,KCNJ5突变组中女性更多(72.7%对39.5%,P=0.004)、肿瘤直径更大[2.0 cm(0.7~4.0 cm)对1.3 cm(0.7~9.1 cm),P=0.001]、术后获得完全临床缓解的患者比例更高(57.6%对16.2%,P<0.001)。进一步多因素分析显示仅KCNJ5体细胞突变与单侧原醛症患者术后完全临床缓解独立相关。该研究表明KCNJ5体细胞突变可作为单侧原醛症患者术后临床缓解的预测因子。

An article,entitled"KCNJ5 somatic mutation is a predictor of hypertension remission after adrenalectomy for unilateral primary aldosteronism"published in JCEM in October 2019,was translated into Chinese here after obtaining the copyright agreement[Leticia A,et al.J Clin Endocrinol Metab,2019,104(10):4695-4702].This retrospective study is intended to investigate the clinical and molecular features associated with hypertension remission after adrenalectomy in patients unilateral primary aldosteronism(PA).Based upon primary aldosteronism surgical outcome(PASO)criteria,the present study enrolled 100 cases of unilateral PA,both of whom achieved a complete biochemical success after unilateral adrenalectomy.The surgically removed tumor sections of 76 cases were sequenced to identify somatic mutations of KCNJ5.Post-surgical follow-up revealed that complete clinical success was achieved in 37 out of 100 cases(37%).Targeting sequencing revealed 33 out of 76 cases(43.4%)harbors a somatic mutation of KCNJ5.Among patients with complete clinical success after adrenalectomy,73%were women(P=0.042),48.6%used<3 antihypertensive medications(P<0.001)and 64.9%had hypertension duration<10 years(P=0.015)when compared to those without complete clinical success.Somatic mutation of KCNJ5 was associated with female gender(P=0.004),larger nodules(P=0.001),and complete clinical success after adrenalectomy(P<0.001).In multivariate analysis,only the somatic mutation of KCNJ5 was identified as an independent predictor of complete clinical success in unilateral PA patients(P=0.004).This study reveals that somatic mutation of KCNJ5 could be introduced as a predictor of hypertension remission after adrenalectomy in unilateral PA patients.