Frontiers in Pediatrics | |
Overview of Monogenic Forms of Hypertension Combined With Hypokalemia | |
article | |
Yi-Ting Lu1  Ying Zhang1  Xu Meng1  Qiong-Yu Zhang1  Lin Zhao1  Kun-Qi Yang1  Xian-Liang Zhou1  | |
[1] Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College | |
关键词: monogenic hypertension; hypokalemia; phenotypic variability; pathophysiology; genetic sequencing; | |
DOI : 10.3389/fped.2020.543309 | |
学科分类:社会科学、人文和艺术(综合) | |
来源: Frontiers | |
【 摘 要 】
Hypertension is an important risk factor in many conditions and creates a heavy burden of disease and mortality globally. Polygenic hypertension is the most common form; however, it is increasingly recognized that monogenic hypertension is not rare, especially in patients with electrolyte disorders. Single genetic alterations are associated with plasma volume expansion and catecholamines/sympathetic excess with simultaneously increased potassium excretion in the urine and potassium intracellular shift. Early-onset refractory hypertension and profound hypokalemia are characteristics of monogenic hypertension. However, accumulated evidence shows the existence of phenotypic heterogeneity in monogenic hypertension meaning that, even for mild symptoms, clinicians cannot easily exclude the possibility of monogenic hypertension. Genetic, epigenetic and non-genetic factors are all possible mechanisms influencing phenotypic diversity. Genetic sequencing is a precise and efficient method that can broaden the mutant gene spectrum of the disease and is very helpful for understanding the pathophysiology of monogenic hypertension. Genetic sequencing, along with biochemical tests and imaging modalities, is essential for the early diagnosis and targeted management of monogenic hypertension to avoid long-term catastrophic complications.
【 授权许可】
CC BY
【 预 览 】
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