Abstract:
:In glucocorticoid-remediable aldosteronism (GRA), there is a large interfamily variation of phenotype. We report three subjects with GRA in a single family (parents, two brothers and two sisters), of whom only one (proband) displayed classical features of the mineralocorticoid excess. The proband was a man found to be hypertensive and hypokalaemic at the age of 24 years. Plasma renin activity was suppressed and plasma aldosterone was repeatedly elevated. Blood pressure and aldosterone levels normalized within 5 days of dexamethasone therapy. The presence of a chimaeric CYP11B1/CYP11B2 gene was demonstrated by long-PCR and Southern blotting (crossover site at the end of intron 3) in the proband, in the younger sister (sibling 1) and in the father. In these patients, sequencing of the chimaeric portion of CYP11B1 did not reveal any mutation, while sequencing of the chimaeric portion of CYP11B2 showed a V386A polymorphism in exon 7, known to cause only a minimal impairment of enzymatic activity. Sibling 1 was normotensive, normokalaemic and had normal PRA and aldosterone. The father had normal blood pressure and potassium, low-normal PRA and normal aldosterone. All three subjects had elevated levels of urinary 18-hydroxycortisol and 18-oxocortisol. Baseline 11-deoxycorticosterone (DOC), corticosterone (B) and aldosterone were high in the proband and normal in the father and sibling 1; 11-deoxycortisol (S) and cortisol (F) were normal. ACTH induced a normal increase of B, DOC, S and F, and an excessive aldosterone increase in all three patients. Abnormalities in the chimaeric portions of CYB11B1 or CYP11B2 genes did not account for the phenotypic disparity of the different members in a single GRA family. Altered regulation of the chimaeric gene may be responsible for differences in its activity.
journal_name
J Hum Hypertensjournal_title
Journal of human hypertensionauthors
Fallo F,Pilon C,Williams TA,Sonino N,Morra Di Cella S,Veglio F,De Iasio R,Montanari P,Mulatero Pdoi
10.1038/sj.jhh.1001636subject
Has Abstractpub_date
2004-01-01 00:00:00pages
47-51issue
1eissn
0950-9240issn
1476-5527pii
1001636journal_volume
18pub_type
杂志文章abstract::Clinical studies have shown that aldosterone and salt are independently related to hypertension, cardiovascular morbidity and mortality. More recently, studies in humans have demonstrated that, similarly to animals, endogenous aldosterone and dietary salt intake have not only separate, but also combined effects to acc...
journal_title:Journal of human hypertension
pub_type: 杂志文章,评审
doi:10.1038/jhh.2012.27
更新日期:2013-01-01 00:00:00
abstract::The renin-angiotensin system is central to the pathophysiology of a number of cardiovascular disorders. Most obviously this is so with renin secreting tumours, but the system is of central importance in other disorders such as scleroderma renal crisis and most cases of malignant hypertension. Activation of the renin-a...
journal_title:Journal of human hypertension
pub_type: 杂志文章,评审
doi:10.1038/sj.jhh.1000638
更新日期:1998-05-01 00:00:00
abstract::We compared haemodynamic and humoral responses to nifedipine and nilvadipine in 25 elderly hypertensives. The study had a single-blind crossover design. Doppler flowmetry and laboratory examinations were performed before and after nifedipine and nilvadipine. Both nifedipine and nilvadipine significantly reduced mean a...
journal_title:Journal of human hypertension
pub_type: 临床试验,杂志文章
doi:
更新日期:1995-04-01 00:00:00
abstract::The value of microalbuminuria in predicting hypertensive complications in pregnant patients at high risk was tested in a prospective trial. A total of 276 patients were studied (142 in the study group vs 134 controls). Albumin was measured in 8-h overnight urine collection throughout pregnancy using radioimmunoassay t...
journal_title:Journal of human hypertension
pub_type: 杂志文章
doi:
更新日期:1996-09-01 00:00:00
abstract::Hypertension is poorly managed. Hospital-based pharmacists working with physicians have been shown to improve the rate of achievement of "target" blood pressure in selected patients. It is unknown if such schemes can operate in the community and to what extent they would attract volunteers with poorly managed blood pr...
journal_title:Journal of human hypertension
pub_type: 杂志文章
doi:10.1038/sj.jhh.1001220
更新日期:2001-08-01 00:00:00
abstract::Blood pressure (BP) measurement is the basis for the diagnosis and management of arterial hypertension. The aim of this study was to compare BP measurements performed in the office and at home (home blood pressure monitoring, HBPM) in children and adolescents with chronic arterial hypertension. HBPM was performed by t...
journal_title:Journal of human hypertension
pub_type: 杂志文章
doi:10.1038/jhh.2008.167
更新日期:2009-07-01 00:00:00
abstract::It has been suggested that risks of hypertension and cardiovascular disease begin in utero and that maternal nutrition plays an important role. We have examined the relation between maternal factors and BP in a study of 1,311 children in which physical measurements at 9-11 years of age have been linked to a parental q...
journal_title:Journal of human hypertension
pub_type: 杂志文章
doi:
更新日期:1994-05-01 00:00:00
abstract::Activation of the renin-angiotensin system both systemically and locally seems to be of importance for cardiovascular hypertrophy and remodelling. The octapeptide angiotensin II definitively plays a central role. In the reversal, for example, of left ventricular hypertrophy, so far the most important independent risk ...
journal_title:Journal of human hypertension
pub_type: 杂志文章,评审
doi:
更新日期:1995-11-01 00:00:00
abstract::Both trandolapril and verapamil are effective and widely used antihypertensive agents. The aim of this study was to estimate the efficacy and tolerability of trandolapril/verapamil (Tr/Ve) combination for blood pressure control and renoprotection. PubMed, EMBASE and Cochrane Library were searched for relevant studies....
journal_title:Journal of human hypertension
pub_type: 杂志文章,meta分析
doi:10.1038/jhh.2010.60
更新日期:2011-03-01 00:00:00
abstract::Epidemiological studies indicate that elevated blood pressure (BP) is common among children. Early detection of elevated BP in children is important in the prevention of cardiovascular disease (CVD). Difficulties exist in the diagnosis of "elevated" BP in children of 8-12 years of age. Normative tables of sex, age, an...
journal_title:Journal of human hypertension
pub_type: 杂志文章
doi:10.1038/s41371-019-0290-z
更新日期:2020-03-01 00:00:00
abstract::The aim of the study was to investigate the effect of therapy by rilmenidine on endothelial and platelet function in 23 patients with the early stages of untreated essential hypertension. The measurements were carried out before therapy, after 1 week of placebo administration, after 1 week, after 1 month and after 3 m...
journal_title:Journal of human hypertension
pub_type: 临床试验,杂志文章
doi:10.1038/sj.jhh.1001427
更新日期:2002-08-01 00:00:00
abstract::Elevated visit-to-visit blood pressure variability (BPV), independent of mean BP, has been associated with cardiovascular events. However, its impact after ST-elevation myocardial infarction (STEMI) has not been established. This study aimed to investigate the prognostic impact of BPV on patients after STEMI. We analy...
journal_title:Journal of human hypertension
pub_type: 杂志文章
doi:10.1038/s41371-019-0176-0
更新日期:2019-04-01 00:00:00
abstract::The purpose of this study was to estimate the current prevalence and distribution of hypertension in an adult Tehranian population. Data were collected for 3343 men and 5148 women aged 20-69 years in the Tehran Lipid and Glucose Study (TLGS), which is a cross-sectional phase of a large epidemiologic study, first estab...
journal_title:Journal of human hypertension
pub_type: 杂志文章
doi:10.1038/sj.jhh.1001399
更新日期:2002-05-01 00:00:00
abstract::Often a single blood pressure (BP) measurement is used to diagnose and manage hypertension in busy clinics. However, repeated BP measurements have been shown to be more representative of the true BP status of the individual. Improper measurement of office BP can lead to inaccurate classification, overestimation of a p...
journal_title:Journal of human hypertension
pub_type: 杂志文章
doi:10.1038/s41371-019-0200-4
更新日期:2019-08-01 00:00:00
abstract::Aortic dissection is a disease of immediate consequence,as mortality of a proximal dissection is in excess of 50% when left untreated. Early recognition of the dissection event can lead to faster definitive correction with surgical and/or novel percutaneous approaches. Widely varying signs and symptoms can, however, m...
journal_title:Journal of human hypertension
pub_type: 信件
doi:10.1038/sj.jhh.1002208
更新日期:2007-10-01 00:00:00
abstract::In addition to high blood pressure, hypertension is characterised by metabolic and cardiovascular abnormalities, including decreased arterial compliance. To evaluate arterial involvement in early hypertension, we have employed a technique that analyses the arterial pulse wave contour to separately quantify proximal co...
journal_title:Journal of human hypertension
pub_type: 杂志文章
doi:
更新日期:1991-10-01 00:00:00
abstract::Hypertension and hyperhomocystinemia have a joint effect on the risk of stroke. We aimed to evaluate the relationship between plasma total homocysteine (tHcy) and blood pressure in two independent Chinese populations. Four thousand five hundred and fifty-five participants who underwent health examinations between Marc...
journal_title:Journal of human hypertension
pub_type: 杂志文章
doi:10.1038/s41371-019-0288-6
更新日期:2020-09-01 00:00:00
abstract::Genetic influences in cerebrovascular disease (CVD) may act either independently or by predisposing to, or modulating, the effect of risk factors such as hypertension. Factors involved in the pathogenesis of atherosclerosis, thrombosis and vasoconstriction are important in CVD. The angiotensinogen gene has recently be...
journal_title:Journal of human hypertension
pub_type: 杂志文章
doi:
更新日期:1995-08-01 00:00:00
abstract::Few studies have investigated the presence of dyslipidaemia in hypertensive individuals. In addition, few data exist on the concurrent treatment of both conditions for the prevention of cardiovascular disease (CVD). This retrospective cohort study examined treatment patterns for hypertension and dyslipidaemia among hy...
journal_title:Journal of human hypertension
pub_type: 杂志文章,多中心研究
doi:10.1038/sj.jhh.1002249
更新日期:2007-12-01 00:00:00
abstract::A neurogenic component to primary hypertension (hypertension) is now well established. Along with raised vasomotor tone and increased cardiac output, the chronic activation of the sympathetic nervous system in hypertension has a diverse range of pathophysiological consequences independent of any increase in blood pres...
journal_title:Journal of human hypertension
pub_type: 杂志文章,评审
doi:10.1038/jhh.2011.66
更新日期:2012-08-01 00:00:00
abstract::This work examines the association between hypertension and hypothyroidism in geriatric patients seen at a primary care medical office. One hundred and twenty-two geriatric patients with elevated thyroid stimulating hormone (TSH) levels were selected for the study. An equal number of euthyroid geriatric individuals we...
journal_title:Journal of human hypertension
pub_type: 杂志文章
doi:10.1038/sj.jhh.1000799
更新日期:1999-04-01 00:00:00
abstract::Lipoprotein(a) (Lp(a)) is considered an important risk factor for coronary disease, cerebrovascular pathology and re-stenosis of coronary bypass. Few studies have been conducted on this lipoprotein in essential arterial hypertensive patients. The purpose of our study was to measure the serum concentrations of Lp(a) an...
journal_title:Journal of human hypertension
pub_type: 杂志文章
doi:10.1038/sj.jhh.1000540
更新日期:1998-02-01 00:00:00
abstract::Blood pressure, one of the important vital signs, is affected by multiple genetic and environmental factors. Recently, several genome-wide association (GWA) studies have successfully identified genetic factors that influence blood pressure and hypertension risk. In this study, we report results of the Korean Associati...
journal_title:Journal of human hypertension
pub_type: 杂志文章
doi:10.1038/jhh.2009.86
更新日期:2010-06-01 00:00:00
abstract::The clinical syndrome of supine hypertension associated with orthostatic hypotension (OH) in given individuals is recognized by specialists, but is underdiagnosed in the community. The objective of this study was to assess supine hypertension associated with hypotensive reactions on head-up tilt (SH-HRT) among patient...
journal_title:Journal of human hypertension
pub_type: 杂志文章
doi:10.1038/sj.jhh.1001947
更新日期:2006-02-01 00:00:00
abstract::The commonly used methods of estimating the 24-h urinary sodium (UNa) and urinary potassium (UK) from spot urine (SU) are the Kawasaki method (K-method), INTERSALT method (I-method), and Tanaka method (T-method), but the method that is suitable for use in the general Chinese population is still uncertain. We aimed to ...
journal_title:Journal of human hypertension
pub_type: 杂志文章
doi:10.1038/s41371-019-0274-z
更新日期:2020-02-01 00:00:00
abstract::Studies of populations or communities with no rise in blood pressure (BP) with advancing age and low prevalence of hypertension, may provide aetiological clues on the cause of hypertension. Within westernised societies, low blood pressures have been reported amongst chronic psychiatric in-patients and closed order sec...
journal_title:Journal of human hypertension
pub_type: 杂志文章
doi:10.1038/sj.jhh.1000853
更新日期:1999-07-01 00:00:00
abstract::Blood pressure (BP) above optimal (< or =120/< or =80 mmHg) is established as a major cardiovascular disease (CVD) risk factor. Prevalence of adverse BP is high in most adult populations; until recently research has been sparse on reasons for this. Since the 1980s, epidemiologic studies confirmed that salt, alcohol in...
journal_title:Journal of human hypertension
pub_type: 杂志文章,评审
doi:10.1038/sj.jhh.1001603
更新日期:2003-09-01 00:00:00
abstract::Arterial compliance, assessed by the ratio of stroke volume to pulse pressure, and baroreceptor sensitivity (Oxford method), were determined in ten patients with essential hypertension, treated with placebo or indapamide (2.5 mg/day), in a cross-over, single blind study. After three months of therapy, mean arterial pr...
journal_title:Journal of human hypertension
pub_type: 临床试验,杂志文章
doi:
更新日期:1988-10-01 00:00:00
abstract::A sodium intervention project was carried out in Tianjin, China, as part of the Tianjin Project, which is a national pilot, community-based intervention programme to reduce non-communicable diseases. The aim of this 3 year sodium project was to evaluate the feasibility and effects of sodium reduction in the population...
journal_title:Journal of human hypertension
pub_type: 杂志文章
doi:
更新日期:1995-12-01 00:00:00
abstract::A screening programme for cardiovascular risk factors in men aged 50-59 was undertaken in North Uist, and the results compared with an age- and sex-matched control group from Dundee screened as part of the Scottish Heart Health Study. Blood pressure levels were higher in the Islanders than in controls (148 +/- 20/89 +...
journal_title:Journal of human hypertension
pub_type: 杂志文章
doi:
更新日期:1988-08-01 00:00:00