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原发性(特发性)高血压发病机制中的遗传因素

Author
Norman M Kaplan, MD
Section Editor
George L Bakris, MD
Deputy Editor
John P Forman, MD, MSc
Translators
喜杨, 副主任医师

引言

尽管许多单个的基因和遗传因素被认为与原发性高血压(以前称为“特发性”高血压)的发生相关，但就任何特定个体而言，可能有多种基因参与其发病。要准确地判定这些基因各自的相对贡献非常困难[1]。

即使没有其他危险因素，某些罕见的突变也可能导致高血压(即“单基因遗传性”高血压，如Liddle综合征)。然而，较常见的遗传变异(多态性)似乎对血压的影响很小[2,3]。举例来说，校正年龄、性别和体质指数后，一组与高血压相关的200个多态性可以解释一个大样本人群的不足1.3%的收缩压变异性[2]。

因此，除了很小一部分已发现为单基因遗传机制的高血压患者，原发性高血压是一种“变异性被描述为连续性单峰频数分布的一种生理状态的极端情况”[4]。所以，寻找可作为高血压“病因”的单基因甚至多基因是徒劳的。

除了与高血压相关的基因，还有一些基因保护机体免于发生高血压。一个例子是Gitelman综合征，这种患者的远端小管噻嗪类敏感的Na-Cl共同转运体发生功能失去性突变，其血压低于没有这种缺陷的个体。 (参见“Bartter综合征和Gitelman综合征”)

遗传因素与高血压相关性不能证明因果关系。然而，遗传因素可能对高血压患者体内发现的多种生理参数的变化发挥作用。本专题将总结导致原发性高血压的易感遗传因素。

         

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Literature review current through: 2017-06 . | This topic last updated: 2016-02-22.
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