The Research Progress of Monogenic Inherited Hypertension

Wenxiu Liu, Xinhua Yin
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引用次数: 1

Abstract

Monogenic inherited hypertension, which is caused by a single gene mutation, generally conforms to the Mendel’s law, but its phenotype is affected by environmental factors as well. This type of hypertension is characterized by early onset (more common in adolescents), family history, severe hypertension, or refractory hypertension. It is often accompanied by abnormal hormone level and biochemical indicators, including low activity of plasma renin, abnormal potassium, and acid-base metabolization disorder. For adolescents with a family history of moderate to severe hypertension, hormone level (including plasma renin-angiotensin-aldoste-rone, cortisol, and sex hormone) and blood electrolytes should be measured and the detailed diagnosis should be determined according to medical history, physical signs, and test results. Currently, 17 kinds of monogenic hereditary hypertension have been clearly determined. Thanks to the development of gene detection technology, the diagnostic level of monogenic inherited hypertension has greatly improved and the pathogenesis has been gradually clarified. Our review mainly discussed the research progress in this field.
单基因遗传性高血压的研究进展
由单一基因突变引起的单基因遗传性高血压通常符合孟德尔定律,但其表型也受到环境因素的影响。这类高血压的特点是发病早(在青少年中更常见)、家族史、严重高血压或难治性高血压。常伴有激素水平和生化指标异常,包括血浆肾素活性低、钾异常、酸碱代谢紊乱。对于有中重度高血压家族史的青少年,应测量激素水平(包括血浆肾素-血管紧张素-醛固酮、皮质醇和性激素)和血液电解质,并根据病史、体征和检测结果确定详细诊断。目前,已明确确定17种单基因遗传性高血压。由于基因检测技术的发展,单基因遗传性高血压的诊断水平大大提高,发病机制也逐渐明确。我们的综述主要讨论了该领域的研究进展。
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