摘要
单基因遗传性高血压是由单个基因突变所致,符合孟德尔遗传定律。单基因遗传性高血压人群具有家族聚集性、青少年发病和难治性高血压(包括利尿剂在内的3种或以上降压药治疗后血压控制欠佳)的特点,血生化检查异常表现有血浆肾素活性降低、血钾异常、酸碱代谢紊乱等。目前已明确的单基因遗传性高血压有17种(包含以高血压为主要临床表现的多发性内分泌腺瘤病)。随着基因测序技术的发展,单基因遗传性高血压的诊断水平迅速提高,发病机制逐步明确,本文综述该领域的研究进展。
Monogenic forms of hypertension result from a single genetic mutation, following Mendel＇ s law. They are characterized in the majority of cases by early onset, familial aggregation and refractory hypertension （uncontrolled by three or more hypertensive drugs, with diuretics included）. Blood biochemical abnormalities are manifested in low plasma renin activity, abnormal potassium concentration and metabolic acid-base imbalance. So far, seventeen kinds of inherited hypertension have been found, including multiple endocrine neoplasia that are clinical expression with hypertension. With the development of genetic sequencing technology, diagnose level of inherited hypertension improved rapidly, the pathogenesis have been explicated gradually. This paper gives the overview of research in this field.
出处
《循证医学》
CSCD
2016年第6期370-374,共5页
The Journal of Evidence-Based Medicine
基金
广东省科技计划项目-社会发展领域资助项目(2014A020212404)
关键词
单基因遗传病
高血压
低肾素活性
盐皮质激素
monogenic inherited disease
hypertension
low renin activity
mineralocorticoid
