摘要目的:分析伴低钾血症的醛固酮瘤患者的腺瘤组织中KCNJ5基因突变情况，比较有无KCNJ5突变患者的临床特点。方法:回顾性分析144例手术病理证实的醛固酮瘤患者的临床资料，进行腺瘤组织的KCNJ5基因的外显子扩增与测序。并比较有无KCNJ5基因突变患者的血钾水平、心脏并发症等差异。结果:伴低钾血症的醛固酮瘤中KCNJ5的突变率为91%（131/144例）。其中，G151R突变68例，L168R突变56例，E145Q突变5例，V156_K160delITE和G151delinsVR各1例。有KCNJ5突变较无KCNJ5突变的患者术前血钾水平更低，心脏并发症更多，术后收缩压更低，术后血压缓解更好。G151R和L168R两组患者年龄、性别、血压、血钾、血浆肾素及醛固酮水平差异无统计学意义。结论:伴低血钾的醛固酮瘤患者的腺瘤组织中KCNJ5突变率为91%，提示KCNJ5突变是伴低血钾的醛固酮瘤的主要病因。

abstractsObjective:To analyze KCNJ5 mutation of adenomas in patients with aldosterone-producing adenoma (APA) companying with hypokalemia, and to compare the clinical characteristics of patients with and without KCNJ 5 mutations.Methods:Clinical data of 144 APA patients were retrospectively analyzed. DNA were extracted from adenoma tissues, and amplified and sequenced for KCNJ5 gene. The serum potassium level and cardiac complications in patients with and without KCNJ5 gene mutation were compared.Results:Among 144 tumors, 131 tumors (91%) had KCNJ5 mutation, including 68 tumors with G151R, 56 tumors with L168R, 5 tumors with E145Q, and two tumors with novel mutations, V156_K160delITE and G151delinsVR. Compared with patients without KCNJ5 mutation, patients with KCNJ5 mutation had lower preoperative serum potassium levels, more cardiac complications, lower postoperative systolic blood pressure, and better postoperative hypertension relief. There were no statistical differences in age, gender, blood pressure, serum potassium level, plasma renin activity or plasma aldosterone concertration.Conclusion:91% adenomas in patients with APA and hypokalemia had KCNJ5 mutation, suggesting that KCNJ5 mutation is the main cause in these patients.