TY - JOUR

T1 - Genetics and pathophysiology of low-renin arterial hypertension

AU - Markel, A. L.

PY - 2018/1/1

Y1 - 2018/1/1

N2 - The review is devoted to the consideration of genetic determination and pathophysiology of one of the forms of hypertensive disease known as low-renin hypertension. At first glance, the development of low-renin hypertension is “unnatural”, as renin, as a key enzyme of the renin-angiotensin system, which plays an important role in the development of hypertensive disease, is suppressed in low-renin hypertension. At the same time, the most important drugs actual in the treatment of hypertensive disease belong to the renin-angiotensin system blockers. This contradiction was resolved by a study of genetic and pathophysio-logical mechanisms of hypertension in some groups of patients with characteristic symptoms bringing these people together. Genetic studies of some recent decades using both family analysis and modern molecular genetic technologies have revealed the main mechanisms underlying low-renin hypertension, which can be classified as certain syndromes with well-defined genetic and clinical features. These syndromes include cases of sporadically occurring somatic mutations in the cells of the adrenal cortex, which begin to produce aldosterone in increased amounts. Also, several oligogenic forms of low-renin hypertension were studied, some of which are associated with the hyperproduction of aldosterone, but in the others the development of low-renin hypertension was associated with mutations of genes involved in regulation of the functioning of the kidney ion channels. The discovery of some types of arterial hypertension with known mechanisms of their development is of paramount importance for medicine, as it allows for targeted efective therapy and in some cases for achieving a complete cure. However, the main contingent of patients with low-renin hypertension belongs to cases with unexplained etiology, as their development is associated with polygenic systems and with a significant influence of numerous environmental factors. The study of genetic and physiological mechanisms of various forms of low-renin arterial hypertension provides a good example of how penetration into the intimate mechanisms of the blood pressure regulation in each personal case makes it possible to identify some specific syndromes and establish its final causes. It seems that progress in understanding the causes and mechanisms of essential hypertension lies along this way.

AB - The review is devoted to the consideration of genetic determination and pathophysiology of one of the forms of hypertensive disease known as low-renin hypertension. At first glance, the development of low-renin hypertension is “unnatural”, as renin, as a key enzyme of the renin-angiotensin system, which plays an important role in the development of hypertensive disease, is suppressed in low-renin hypertension. At the same time, the most important drugs actual in the treatment of hypertensive disease belong to the renin-angiotensin system blockers. This contradiction was resolved by a study of genetic and pathophysio-logical mechanisms of hypertension in some groups of patients with characteristic symptoms bringing these people together. Genetic studies of some recent decades using both family analysis and modern molecular genetic technologies have revealed the main mechanisms underlying low-renin hypertension, which can be classified as certain syndromes with well-defined genetic and clinical features. These syndromes include cases of sporadically occurring somatic mutations in the cells of the adrenal cortex, which begin to produce aldosterone in increased amounts. Also, several oligogenic forms of low-renin hypertension were studied, some of which are associated with the hyperproduction of aldosterone, but in the others the development of low-renin hypertension was associated with mutations of genes involved in regulation of the functioning of the kidney ion channels. The discovery of some types of arterial hypertension with known mechanisms of their development is of paramount importance for medicine, as it allows for targeted efective therapy and in some cases for achieving a complete cure. However, the main contingent of patients with low-renin hypertension belongs to cases with unexplained etiology, as their development is associated with polygenic systems and with a significant influence of numerous environmental factors. The study of genetic and physiological mechanisms of various forms of low-renin arterial hypertension provides a good example of how penetration into the intimate mechanisms of the blood pressure regulation in each personal case makes it possible to identify some specific syndromes and establish its final causes. It seems that progress in understanding the causes and mechanisms of essential hypertension lies along this way.

KW - Aldosterone

KW - Arterial blood pressure

KW - Genetic determination

KW - Hypertensive disease

KW - Kidney ion channels

KW - Low-renin hypertension

KW - Pathophysiology

KW - Regulation

KW - Renin

KW - arterial blood pressure

KW - regulation

KW - hypertensive disease

KW - low-renin hypertension

KW - genetic determination

KW - pathophysiology

KW - aldosterone

KW - renin

KW - kidney ion channels

KW - ALDOSTERONE-PRODUCING ADENOMAS

KW - SALT SENSITIVITY

KW - BLOOD-PRESSURE

KW - MINERALOCORTICOID RECEPTOR

KW - CONFIRMATORY TESTS

KW - SOMATIC MUTATIONS

KW - CHANNEL MUTATIONS

KW - DIAGNOSIS

KW - SECRETION

KW - PREVALENCE

UR - http://www.scopus.com/inward/record.url?scp=85064809509&partnerID=8YFLogxK

UR - https://www.elibrary.ru/item.asp?id=36587801

U2 - 10.18699/VJ18.443

DO - 10.18699/VJ18.443

M3 - Review article

AN - SCOPUS:85064809509

VL - 22

SP - 1000

EP - 1008

JO - Вавиловский журнал генетики и селекции

JF - Вавиловский журнал генетики и селекции

SN - 2500-0462

IS - 8

ER -