单基因遗传性高血压的研究进展

Advances in genetic research of monogenic inherited hypertension

单基因遗传性高血压是一种符合孟德尔遗传规律、家族聚集性难治性高血压。单基因遗传性高血压的患病率相对较低,病因相对明确,由单基因突变所致。由于外显率不全,单基因遗传性高血压临床表型异质性显著,易造成误诊或漏诊,仅靠临床表现并不能做出精准的诊断。基因检测是准确诊断单基因遗传性高血压的重要标准,结合基因筛查可识别患者家属致病突变的携带情况。单基因遗传性高血压分子遗传学研究有利于推动高血压发病机制的深入探索,早期明确诊断,选择合适的药物控制血压,改善疾病预后。随着基因检测技术的进步,目前已报道18种单基因遗传性高血压,本篇综述重点介绍临床上相对常见的几种单基因遗传性高血压的遗传研究现状。

Monogenic hereditary hypertension is type of resistant hypertension with a Mendelian pattern of inheritance and familial aggregation.The incidence of this disease is relatively low,but its etiology is relatively clear,which is caused by a single gene mutation.Due to incomplete penetrance ratios,the clinical manifestations of monogenic hypertension are diverse,which can easily lead to undiagnosis or misdiagnosed.Clinicians may not be able to make accurate diagnoses solely based on clinical manifestations.Genetic testing is important for accurate diagnosis of monogenic hereditary hypertension.Combining with gene screening,it can identify the carrier of pathogenic gene mutations in patients'family members.The study of molecular genetics of monogenic hereditary hypertension is conducive to promoting the in-depth understanding of the pathogenesis of hypertension,making early and clear diagnosis,so as to select appropriate drugs to control blood pressure and improve the prognosis of the disease.With the progress of genetic testing technology,18 kinds of monogenic inherited hypertension have been reported.This review focuses on the genetic research highlights of several common monogenic inherited hypertension in clinic practice.