原发性醛固酮增多症患者KCNJ5基因变异对其心脏的损害作用

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Abstract Objective To analyze the genetic variation and clinical data of the inward rectifier potassium channel J subfamily member 5 (KCNJ5) in patients with primary aldosteronism, and to investigate the cardiac damage in patients with different KCNJ5 gene mutations in primary aldosteronism. Methods From January 2011 to December 2015, 10 patients with unilateral adrenal cortical hyperplasia (UAH) and 18 patients with aldosterone-producing adenoma (APA) were collected from the Hypertension Center of the People′s Hospital of Xinjiang Uygur Autonomous Region. The general clinical data, biochemical parameters, KCNJ5 genotype were recorded, and echocardiography was performed. Results Among the 128 patients, 7 patients had G151 mutation, 5 patients with L168 mutation, and 16 patients with S209 mutation, and the systolic blood pressure and aldosterone renin activity ratio (ARR) of G151 mutation were higher than those of L168 and S209 mutation, and their blood potassium levels were lower than those of L168 and S209 mutation, and the differences were statistical significant (P < 0.05). The left ventricular diastolic diameter, left ventricular posterior wall thickness and left ventricular mass (LVM) of patients with G151 mutation were higher than those of patients with other two mutation types, and their ejection fraction (EF) was lower than those of patients with L168 and S209 mutation, but there was no significant difference among the three mutations (P > 0.05). In APA patients, the left ventricular diastolic diameter and LVM of G151 mutation patients were higher than those of the other two mutation types, and there were significant difference compared with L168 mutation patients (P < 0.05). Conclusion The degree of damage of different KCNJ5 gene mutations in target aldosteronism patients may be different. The heart damage of patients with G151 mutation is more serious than that of L168 and S209.

Key words： Primary aldosteronism Aldosterone-producing adenoma Unilateral adrenal cortical hyperplasia KCNJ5 gene Different mutations

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	HU Junli HONG Jing WU Ting LI Juan LUO Qin WANG Guoliang WANG Menghui LI Nanfang

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HU Junli HONG Jing WU Ting LI Juan LUO Qin WANG Guoliang WANG Menghui LI Nanfang. Heart damage caused by KCNJ5 gene mutation in patients with primary aldosteronism[J]. 中国医药导报, 2019, 16(8): 63-67.

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http://www.yiyaodaobao.com.cn/EN/ OR http://www.yiyaodaobao.com.cn/EN/Y2019/V16/I8/63

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