A new mutation, R563Q, of the beta subunit of the epithelial sodium channel associated with low-renin, low-aldosterone hypertension

Rayner, Brian; Owen, E.P.; King, Judy A.; Soule, Steven; Vreede, Heleen; Opie, Lionel H.; Marais, David; Davidson, James S.

doi:10.1097/00004872-200305000-00016

Cited by 75 publications

(55 citation statements)

References 29 publications

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“…Thus, our data clearly suggest that disturbances in renin activity may be a risk marker for CVD in black Africans, although it may not be a simple marker of sympathetic activation and instead reflect on inflammatory processes and complex genetic changes in the enzymes controlling the RAAS. 29 We did not observe any reliable associations between cardiovascular stress reactivity and CIMT. Data from the Kuopio Ischemic Heart Disease study showed that systolic blood pressure reactivity was related to CIMT after 7 years follow-up, independently of established risk factors, including smoking, cholesterol, fasting glucose and resting blood pressure.…”

Section: Discussioncontrasting

confidence: 61%

Plasma renin responses to mental stress and carotid intima–media thickness in black Africans: the SABPA study

et al. 2010

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The renin-angiotensin-aldosterone system can be activated by sympathetic nervous input and is thought to have an important role in the prevalence of hypertension and cardiovascular risk in black Africans. We examined (1) the association between plasma renin responses to mental stress and a marker of sub-clinical atherosclerosis; and (2) associations between resting renin and 24-h ambulatory blood pressure. Participants were 143 urbanized black African men and women (43.1 ± 7.7 years) drawn from a study of Sympathetic Activity and Ambulatory Blood Pressure in Africans (SABPA). After an overnight fast, participants completed the Stroop mental stress task. Blood samples were drawn during baseline and 10 min after the task to assess the concentration of active renin in plasma. Blood pressure assessments included continuous Finometer measures during the stress testing and 24-h ambulatory monitoring. Carotid intima-media thickness (CIMT) was measured using high-resolution ultrasound. Approximately 50% of the sample responded to the task with an increase in renin concentration. Multiple linear regression analysis revealed an association between the renin stress response and CIMT (b ¼ 0.024, 95% confidence interval, 0.004-0.043), after adjustment for conventional risk factors, blood pressure stress responses and basal levels of renin activity (R 2 for model ¼ 0.37). In addition, resting renin was inversely associated with ambulatory blood pressure. In summary, heightened release of renin during a laboratory mental stressor was associated with a marker of sub-clinical atherosclerosis; thus, it may be a potential mechanism in explaining the increased burden of cardiovascular disease in urbanized black Africans.

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Section: Discussioncontrasting

confidence: 61%

Plasma renin responses to mental stress and carotid intima–media thickness in black Africans: the SABPA study

et al. 2010

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“…This reaffirms the high prevalence of both these conditions found in previous studies at our hypertension clinic. [10,21] The R563Q β-ENaC mutation and primary hyperaldosteronism are currently treated with good success with amiloride and spironolactone, respectively, emphasising the importance of referring patients with apparent treatment-resistant hypertension to a specialist hypertension clinic.…”

Section: Discussionmentioning

confidence: 99%

“…We also checked serum potassium, creatinine, glucose, total cholesterol, renin and aldosterone and tested for the R563Q mutation of the epithelial sodium channel (ENaC). [10] Left ventricular hypertrophy (LVH) on the electrocardiograph (ECG) and an abnormal urinary albumin/creatinine ratio were used to assess TOD in all patients. LVH was defined using either the Sokolow-Lyon or the Cornell voltage criteria.…”

Section: Methodsmentioning

confidence: 99%

Evaluation and management of patients referred to a tertiary-level hypertension clinic in Cape Town, South Africa

2016

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Background. Hypertension remains a global health burden, with a high incidence of long-term morbidity and mortality. Objectives. To evaluate blood pressure (BP) control, factors associated with poor BP control, target organ damage (TOD), white-coat hypertension, treatment-resistant hypertension and secondary hypertension in patients referred to a tertiary-level hypertension clinic. Method. This was a prospective case-control study of patients referred for specialist hypertension management. Patient parameters recorded included age, gender, body mass index, uric acid, cholesterol, screening BP, follow-up BP, TOD and medications. We also recorded causes of secondary hypertension. Net BP change and the percentage achieving target BP were calculated in all patients followed up. Results. A total of 175 patients were sampled (72 males and 103 females, mean age 46.5 years). Of the patients 16.6% had a normal screening BP; 62.9% of patients were followed up, and 43.6% of these achieved BP control. After intervention, there was a net drop of 13.2 mmHg (range 7.9 -18.4) in systolic BP and of 3.8 mmHg (4.4 -12.0) in diastolic BP. Of all the patients, 12.6% had resistant hypertension, 49.1% had evidence of left ventricular hypertrophy and 18.3% had microalbuminuria; 13.1% of the patients were diagnosed with secondary hypertension. Conclusion. Specialist intervention was useful in identifying patients with white-coat and secondary hypertension, as well as in improving hypertension control in patients with apparent treatment-resistant hypertension. However, a significant percentage of patients did not reach target BP, and further efforts are required to identify the underlying causes for this.

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“…In their review, Padwal 3 this variant is present in 20% of the Khoi San people of the Kalahari, who are not hypertensive with a low sodium intake on the hot, dry Kalahari, but become severely hypertensive when they move to Cape Town, South Africa. 4 This variant accounts for 6% of hypertension in black patients in southern Africa, and 9% among Nguni-Zulu residents of southern Africa.…”

Section: Management Of Resistant Hypertensionmentioning

confidence: 99%

Management of resistant hypertension

Spence¹

2015

CMAJ

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A new mutation, R563Q, of the beta subunit of the epithelial sodium channel associated with low-renin, low-aldosterone hypertension

Abstract: R563Q, a new variant of the beta epithelial sodium channel, is associated with low-renin, low-aldosterone hypertension, in South African black and mixed-ancestry patients. Only a minority of individuals with the R563Q allelle fully express the Liddle's syndrome phenotype.

Cited by 75 publications

References 29 publications

Plasma renin responses to mental stress and carotid intima–media thickness in black Africans: the SABPA study

Plasma renin responses to mental stress and carotid intima–media thickness in black Africans: the SABPA study

Evaluation and management of patients referred to a tertiary-level hypertension clinic in Cape Town, South Africa

Management of resistant hypertension

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