A mineralocorticoid receptor mutation causing human hypertension
A mineralocorticoid receptor mutation causing human hypertension
复制标题
盐皮质激素受体突变导致人类高血压
DOI：
10.1097/00041552-200109000-00018
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发表时间：
2001
影响因子：
3.2
通讯作者：
D. Geller
中科院分区：
文献类型：
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作者：
D. Geller
近年来，单基因型高血压的研究大大增加了我们对影响血压的调节机制的理解。最近，已经描述了一种新的由盐皮质激素受体（远端肾单位中醛固酮诱导的钠转运的介体）的功能获得性突变引起的人类高血压形式，其中值得注意的发现是妊娠导致血压严重恶化。在这篇综述中，突变导致高血压的机制，以及这些发现对提高心血管生理学和盐皮质激素受体生物学的理解的影响，进行了讨论。
In recent years, the study of monogenic forms of hypertension has added greatly to our understanding of the regulatory mechanisms affecting blood pressure. Recently, a novel such form of human hypertension caused by gain-of-function mutation in the mineralocorticoid receptor, the mediator of aldosterone-induced sodium transport in the distal nephron, has been described, with the notable finding being that pregnancy causes a severe worsening of blood pressure. In this review, the mechanism by which the mutation causes hypertension, and the implications these findings have for improved understanding of cardiovascular physiology and mineralocorticoid receptor biology, are discussed.