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低肾素型高血压表型:遗传学与盐皮质激素受体的作用。

The Low-Renin Hypertension Phenotype: Genetics and the Role of the Mineralocorticoid Receptor.

机构信息

Department of Endocrinology, Endocrine Hypertension and Adrenal Disease Program, School of Medicine, Pontificia Universidad Catolica De Chile, Santiago 8330074, Chile.

Department of Medicine, Division of Endocrinology Diabetes and Hypertension, Center for Adrenal Disorders, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.

出版信息

Int J Mol Sci. 2018 Feb 11;19(2):546. doi: 10.3390/ijms19020546.

Abstract

A substantial proportion of patients with hypertension have a low or suppressed renin. This phenotype of low-renin hypertension (LRH) may be the manifestation of inherited genetic syndromes, acquired somatic mutations, or environmental exposures. Activation of the mineralocorticoid receptor is a common final mechanism for the development of LRH. Classically, the individual causes of LRH have been considered to be rare diseases; however, recent advances suggest that there are milder and "non-classical" variants of many LRH-inducing conditions. In this regard, our understanding of the underlying genetics and mechanisms accounting for LRH, and therefore, potentially the pathogenesis of a large subset of essential hypertension, is evolving. This review will discuss the potential causes of LRH, with a focus on implicated genetic mechanisms, the expanding recognition of non-classical variants of conditions that induce LRH, and the role of the mineralocorticoid receptor in determining this phenotype.

摘要

相当一部分高血压患者的肾素水平较低或受到抑制。这种低肾素型高血压(LRH)的表型可能是遗传性综合征、获得性体细胞突变或环境暴露的表现。醛固酮受体的激活是 LRH 发展的常见最终机制。经典地,LRH 的个体病因被认为是罕见疾病;然而,最近的进展表明,许多引起 LRH 的情况存在更温和和“非经典”的变体。在这方面,我们对导致 LRH 的潜在遗传和机制的理解,因此,可能是原发性高血压的一个大子集的发病机制正在不断发展。这篇综述将讨论 LRH 的潜在原因,重点讨论潜在的遗传机制、引起 LRH 的情况的非经典变体的不断扩大的认识,以及醛固酮受体在决定这种表型中的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd7a/5855768/b303fe76a75a/ijms-19-00546-g001.jpg

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