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肾上腺腺瘤为原发性醛固酮增多症的一种常见病因,人类KCNJ5基因编码G蛋白偶联的内向整流型钾通道(GIRK4)蛋白,肾上腺腺瘤组织中KCNJ5基因突变导致GIRK4蛋白结构和功能发生改变,GIRK4蛋白通道离子选择性缺失,且突变型与野生型临床表型之间的差异比较结果提示突变型临床表型更严重。目前已有多项研究发现肾上腺腺瘤患者中KCNJ5基因存在多种体细胞突变,这些突变可能与肾上腺腺瘤的发生、发展密切相关,原发性醛固酮增多症可能存在更多的临床亚型。
Adrenal adenomas are a common cause of primary aldosteronism. The human KCNJ5 gene encodes a G-protein-coupled inward rectifier potassium channel (GIRK4) protein. Mutations in the KCNJ5 gene in adrenal adenomas result in the structural and functional development of GIRK4 protein Change, GIRK4 protein channel ion-selective deletion, and mutant and wild-type clinical phenotype differences between the comparison results suggest that the mutant clinical phenotype more serious. A number of studies have found that there are many somatic mutations in KCNJ5 gene in patients with adrenal adenoma. These mutations may be closely related to the occurrence and development of adrenal adenomas. There may be more clinical subtypes of primary aldosteronism.