Analysis of the genes involved in Mendelian forms of low-renin hypertension in Chinese early-onset hypertensive patients

Li, Kai; Qin, Fang; Sun, Xiaolu; Zhang, Yang; Wang, Jizheng; Yu, Wu; Ma, Wenjun; Wang, Wei; Wu, Xiao-Ming; Qin, Ying; Zhang, Huimin; Zhou, Xin; Wu, Haiying; Hui, Rutai; Zou, Yubao; Jiang, Xiongjing; Song, Lingyun

doi:10.1097/hjh.0000000000001556

Cited by 33 publications

(31 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The prevalence of LS across the general hypertensive population still remains unknown. Three small single-center studies have estimated the prevalence to be about 0.91 [3], 1.52 [4], and 6% [5] among hypertensive patients with genetic testing and phenotypical LS, respectively.…”

Section: Liddle Syndromementioning

confidence: 99%

The Research Progress of Monogenic Inherited Hypertension

Liu¹,

Yin²

2020

Rare Diseases

View full text Add to dashboard Cite

Monogenic inherited hypertension, which is caused by a single gene mutation, generally conforms to the Mendel's law, but its phenotype is affected by environmental factors as well. This type of hypertension is characterized by early onset (more common in adolescents), family history, severe hypertension, or refractory hypertension. It is often accompanied by abnormal hormone level and biochemical indicators, including low activity of plasma renin, abnormal potassium, and acidbase metabolization disorder. For adolescents with a family history of moderate to severe hypertension, hormone level (including plasma renin-angiotensin-aldosterone, cortisol, and sex hormone) and blood electrolytes should be measured and the detailed diagnosis should be determined according to medical history, physical signs, and test results. Currently, 17 kinds of monogenic hereditary hypertension have been clearly determined. Thanks to the development of gene detection technology, the diagnostic level of monogenic inherited hypertension has greatly improved and the pathogenesis has been gradually clarified. Our review mainly discussed the research progress in this field.

show abstract

Section: Liddle Syndromementioning

confidence: 99%

The Research Progress of Monogenic Inherited Hypertension

Liu¹,

Yin²

2020

Rare Diseases

View full text Add to dashboard Cite

show abstract

“…Частота этого синдрома и его выраженность варьируют в разных популяционных выборках. Так, в двух исследованных популяциях больных гипертонической болезнью частоты синдрома Лиддля составили 1.52 и 0.91 % (Wang et al, 2015;Liu et al, 2018). Успешная терапия больных достигается назначением блокаторов каналов ENaC с по мощью амилорида или триамтерена и низкосолевой дие ты (Tetti et al, 2018).…”

Section: наследственная низкорениновая гипертония без увеличения секрunclassified

Genetics and pathophysiology of low-renin arterial hypertension

Markel

2019

Vestn. VOGiS

View full text Add to dashboard Cite

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 frst 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 pathophysiological 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 classifed as certain syndromes with well-defned 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 signifcant 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 specifc syndromes and establish its fnal causes. It seems that progress in understanding the causes and mechanisms of essential hypertension lies along this way.

show abstract

Section: Liddle Syndromementioning

confidence: 99%

“…In two studies, which comprised, after the exclusion of the most common secondary forms of hypertension, 330 and 766 Chinese hypertensive patients, the prevalence of LS was 1.52% 71 and 0.91%. 72 The administration of mineralocorticoid receptor antagonists (MRAs) improves neither hypokalaemia nor arterial hypertension, because Na + reabsorption is independent from mineralocorticoid receptor activation and the lack of response to MRAs can be considered as an adjunctive clinical criterion to suspect the diagnosis. 12 According to the pathophysiology, the specific treatment is represented by the ENaC blockers, amiloride or triamterene, associated with a low-sodium diet.…”

Section: Liddle Syndromementioning

confidence: 99%

Diagnostic approach to low‐renin hypertension

Monticone

Losano

Tetti

et al. 2018

Clinical Endocrinology

View full text Add to dashboard Cite

Renin-angiotensin-aldosterone system (RAAS) plays a crucial role in maintaining water and electrolytes homoeostasis, and its deregulation contributes to the development of arterial hypertension. Since the historical description of the "classical" RAAS, a dramatic increase in our understanding of the molecular mechanisms underlying the development of both essential and secondary hypertension has occurred. Approximatively 25% of the patients affected by arterial hypertension display low-renin levels, a definition that is largely arbitrary and depends on the investigated population and the specific characteristics of the assay. Most often, low-renin levels are expression of a physiological response to sodium-volume overload, but also a significant number of secondary hereditary or acquired conditions falls within this category. In a context of suppressed renin status, the concomitant examination of plasma aldosterone levels (which can be inappropriately elevated, within the normal range or suppressed) and plasma potassium are essential to formulate a differential diagnosis. To distinguish between the different forms of low-renin hypertension is of fundamental importance to address the patient to the proper clinical management, as each subtype requires a specific and targeted therapy. The present review will discuss the differential diagnosis of the most common medical conditions manifesting with a clinical phenotype of low-renin hypertension, enlightening the novelties in genetics of the familial forms.

show abstract

Analysis of the genes involved in Mendelian forms of low-renin hypertension in Chinese early-onset hypertensive patients

Abstract: Liddle's syndrome appears to be the most common low-renin Mendelian hypertension in young Chinese hypertensive patients. Sequencing exon 13 of both SCNN1B and SCNN1G is highly advisable in patients with early-onset and low-renin hypertension.

Cited by 33 publications

References 23 publications

The Research Progress of Monogenic Inherited Hypertension

The Research Progress of Monogenic Inherited Hypertension

Genetics and pathophysiology of low-renin arterial hypertension

Diagnostic approach to low‐renin hypertension

Contact Info

Product

Resources

About