Genetics and pathophysiology of low-renin arterial hypertension

A. L. Markel

doi:10.18699/VJ18.443

Genetics and pathophysiology of low-renin arterial hypertension

Переведенное название: Генетика и патофизиология низкорениновой артериальной гипертонии

A. L. Markel

Результат исследования: Научные публикации в периодических изданиях › обзорная статья › рецензирование

1 Цитирования (Scopus)

Аннотация

Обзор посвящен рассмотрению вопросов генетической детерминации и патофизиологии одной из форм гипертонической болезни - низкорениновой артериальной гипертонии. На первый взгляд, развитие низкорениновой гипертонии представляется «противоестественным», так как ренин как ключевой фермент ренин-ангиотензиновой системы, играющей важную роль в процессе формирования гипертонической болезни, при низкорениновой гипертонии подавлен. В то же время самые популярные лекарства, используемые при лечении гипертонической болезни, относятся к классу блокаторов ренин-ангиотензиновой системы. Разрешить противоречия позволили исследования генетики и патофизиологии некоторых групп больных с характерными, объединяющими этих больных симптомами. Генетические исследования последних десятилетий с использованием как семейного анализа, так и современных молекулярно-генетических технологий позволили выявить основные механизмы развития низкорениновой гипертонии, которые можно классифицировать в качестве определенных синдромов с вполне изученной патофизиологией их развития. К этим синдромам относятся случаи спорадически возникающих соматических мутаций в клетках коры надпочечников, которые начинают продуцировать повышенное количество альдостерона. Выявлено несколько наследственных олигогенных форм низкорениновых гипертензий, часть из которых также связана с гиперпродукцией альдостерона, другая же часть обусловливает развитие низкорениновой гипертонии за счет нарушений регуляции функции ионных каналов почки. Открытие форм артериальной гипертонии с известными механизмами имеет первостепенное значение для медицины, так как позволяет проводить целевую эффективную терапию и в ряде случаев достигать полного излечения. Тем не менее основной контингент больных с низкорениновой гипертонией принадлежит к группе больных с невыясненной до конца этиологией, так как их развитие связано с полигенными системами и со значительным влиянием средовых факторов. Исследование генетико-физиологических механизмов низкорениновых форм артериальной гипертонии дает показательный пример того, как проникновение в интимные механизмы регуляции артериального давления в каждом конкретном случае позволяет идентифицировать отдельные специфические синдромы и устанавливать исходные причины заболевания. Очевидно, на этом пути обеспечен прогресс в раскрытии причин и механизмов эссенциальной гипертонической болезни человека

Переведенное название	Генетика и патофизиология низкорениновой артериальной гипертонии
Язык оригинала	английский
Страницы (с-по)	1000-1008
Число страниц	9
Журнал	Вавиловский журнал генетики и селекции
Том	22
Номер выпуска	8
DOI	https://doi.org/10.18699/VJ18.443
Состояние	Опубликовано - 1 янв. 2018

Ключевые слова

Aldosterone
Arterial blood pressure
Genetic determination
Hypertensive disease
Kidney ion channels
Low-renin hypertension
Pathophysiology
Regulation
Renin

ГРНТИ

34 БИОЛОГИЯ

Доступ к документу

10.18699/VJ18.443

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title = "Genetics and pathophysiology of low-renin arterial hypertension",

abstract = "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.",

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Genetics and pathophysiology of low-renin arterial hypertension. / Markel, A. L.

В: Вавиловский журнал генетики и селекции, Том 22, № 8, 01.01.2018, стр. 1000-1008.

Результат исследования: Научные публикации в периодических изданиях › обзорная статья › рецензирование

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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.

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KW - Arterial blood pressure

KW - Genetic determination

KW - Hypertensive disease

KW - Kidney ion channels

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KW - Pathophysiology

KW - Regulation

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KW - arterial blood pressure

KW - regulation

KW - hypertensive disease

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KW - genetic determination

KW - pathophysiology

KW - aldosterone

KW - renin

KW - kidney ion channels

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KW - BLOOD-PRESSURE

KW - MINERALOCORTICOID RECEPTOR

KW - CONFIRMATORY TESTS

KW - SOMATIC MUTATIONS

KW - CHANNEL MUTATIONS

KW - DIAGNOSIS

KW - SECRETION

KW - PREVALENCE

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