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作 者:郭爽 查灵凤 Guo Shuang;Zha Lingfeng(Department of Vascular Surgery,Beijing Tsinghua Changgung Hospital,School of Clinical Medicine,Tsinghua University,Beijing 102218,China;Department of Cardiology,Union Hospital,Tongji Medical College,Huazhong University of Science and Technology,Hubei Key Laboratory of Biological Targeted Therapy,Hubei Provincial Engineering Research Center of Immunological Diagnosis and Therapy for Cardiovascular Diseases,Wuhan 430022,Hubei,China)
机构地区:[1]清华大学附属北京清华长庚医院血管外科,清华大学临床医学院,北京102218 [2]华中科技大学同济医学院附属协和医院心血管内科,生物靶向治疗研究湖北省重点实验室,心血管疾病免疫诊疗湖北省工程研究中心,湖北武汉430022
出 处:《中国医学前沿杂志(电子版)》2023年第12期70-78,共9页Chinese Journal of the Frontiers of Medical Science(Electronic Version)
摘 要: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.
分 类 号:R544.1[医药卫生—心血管疾病]
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