[1]王慧萍,童安莉.原发性醛固酮增多症相关的基因突变研究进展[J].国际内分泌代谢杂志,2021,41(02):87-90.[doi:10.3760/cma.j.cn121383-20200706-07013]
 Wang Huiping,Tong Anli..Research progress on gene mutation related primary aldosteronism[J].International Journal of Endocrinology and Metabolism,2021,41(02):87-90.[doi:10.3760/cma.j.cn121383-20200706-07013]
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原发性醛固酮增多症相关的基因突变研究进展()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
41
期数:
2021年02期
页码:
87-90
栏目:
肾上腺疾病专题
出版日期:
2021-03-20

文章信息/Info

Title:
Research progress on gene mutation related primary aldosteronism
作者:
王慧萍12童安莉1
1中国医学科学院北京协和医学院北京协和医院内分泌科,国家卫生健康委员会内分泌重点实验室 100730; 2河北北方学院研究生学院,张家口 075000
Author(s):
Wang Huiping12 Tong Anli1.
1Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission of the People's Republic of China, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 10073
关键词:
原发性醛固酮增多症 发病机制 基因突变
Keywords:
Primary aldosteronism Pathogenesis Gene mutation
DOI:
10.3760/cma.j.cn121383-20200706-07013
摘要:
原发性醛固酮增多症(简称原醛)是最常见的继发性高血压。近年来,随着全外显子测序等技术的应用,原醛发病机制的研究获得了很大的进展,驱动醛固酮合成的基因胚系和体系突变是导致原醛发病的主要机制,尤其在醛固酮腺瘤、特醛症和家族性醛固酮增多症方面的研究成果不断地更新我们的认识。
Abstract:
Primary aldosteronism(PA)is the most common secondary hypertension. In recent years, with the application of whole exome sequencing(WES), great progress has been made in the pathogenesis of PA. Germline and somatic mutations of aldosterone synthesis-driving genes are the main pathogenesis leading to PA, which greatly update our understanding of this dissease, especially in aldosterone-producing adenoma, idiopathic hyperaldosteronism and familial hyperaldosteronism.

参考文献/References:

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备注/Memo

备注/Memo:
通信作者:童安莉,Email:tonganli@hotmail.com 基金项目:国家自然科学基金(81770427,82070822)
更新日期/Last Update: 2021-03-20