Piskorz D, Alcocer L, López Santi R
… +18 more, Puente Barragán A, Múnera A, Molina DI, Galván Oseguera H, Barroso WS, Palomo S, Díaz-Díaz E, Cardona-Muñoz E, Wyss F, Ponte Negretti C, Rosas Peralta M, Chávez Mendoza A, Alvares López H, Patiño EP, Guerra López A, Escudero X, Enciso JM, Writing Group of Mexico Hypertension Experts Group, Interamerican Society of Hypertension, Epidemiology and Cardiovascular Prevention Council of the Interamerican Society of Cardiology, and National Cardiologist Association of Mexico
PURPOSE: To share a Latin-American perspective of the use of telemedicine, together with blood pressure measurements outside the medical office, as a potential contribution to improving access to the health system, diagn...PURPOSE: To share a Latin-American perspective of the use of telemedicine, together with blood pressure measurements outside the medical office, as a potential contribution to improving access to the health system, diagnosis, adherence, and persistence in hypertension treatment. MATERIAL AND METHODS: A document settled by a Writing Group of Mexico Hypertension Experts Group, Interamerican Society of Hypertension, Epidemiology and Cardiovascular Prevention Council of the Interamerican Society of Cardiology, and National Cardiologist Association of Mexico. RESULTS: In almost all Latin American countries, the health sector faces two fundamental challenges: (1) ensure equitable access to quality care services in a growing population that faces an increase in the prevalence of chronic diseases, and (2) optimise the growing costs of health services, maintaining equity, accessibility, universality, and quality. Telehealth proposes an innovative approach to patient management, especially for chronic conditions, intending to provide remote consultation, education, and follow-up to achieve measurements and goals. It is a tool that promises to improve access, empower the patient, and somehow influence their behaviour about lifestyle changes, improving prevention and reducing complications of hypertension. The clinical practitioner has seen increased evidence that the use of out-of-office blood pressure (BP) measurement and telemedicine are helpful tools to keep patients and physicians in contact and promote better pharmacological adherence and BP control. A survey carried out by medical and scientific institutions showed that practitioners are up-to-date with telemedicine, had internet access, and had hardware availability. CONCLUSIONS: A transcendent issue is the need to make the population aware of the benefits of taking blood pressure to avoid complications of hypertension, and in this scenario, promote the creation of teleconsultation mechanisms for the follow-up of patients diagnosed with hypertension.
PURPOSE: Previous studies have indicated that the prevalence rate of hypertension in adolescents is high, but it has not received much attention and the influencing factors are unclear, especially in Yunnan Province, Chi...PURPOSE: Previous studies have indicated that the prevalence rate of hypertension in adolescents is high, but it has not received much attention and the influencing factors are unclear, especially in Yunnan Province, China. MATERIALS AND METHODS: A cluster sampling method was used to investigate 4781 freshmen in a college in Kunming, Yunnan Province from November to December. Demographic and lifestyle data were collected using questionnaires, and height, weight and blood pressure were measured. Decision tree model of hypertension in college students was established by Chi-square automatic interactive detection method. RESULTS: Prevalence of prehypertension of systolic blood pressure (SBP) and diastolic blood pressure (DBP) were detected in 33.9% and 32.1%, respectively. Prevalence of hypertension of SBP and DBP was detected in 1.2% and 7.2%, respectively. The hypertension and prehypertension decision tree of SBP has gender ( = 728.64, .001) at the first level and body mass index (BMI) (boys: = 55.98, .001; girls: = 79.58, .001) at the second level. The hypertension and prehypertension decision tree of DBP has gender ( = 381.83, .001) at the first level, BMI (boys: = 40.54, .001; girls: = 48.79, .001) at the second level, only children ( = 6.43, .04) and red wine consumption ( = 8.17, .017) at the third level. CONCLUSIONS: The present study suggests that gender, BMI, only children and red wine consumption were the main factors affecting hypertension in college students in southwest border areas of China.
PURPOSE: This study aims to investigate the relationship between serum uric acid levels and endothelial function, oxidative stress, and hemodynamic parameters, and to determine if uric acid levels provide additional insi...PURPOSE: This study aims to investigate the relationship between serum uric acid levels and endothelial function, oxidative stress, and hemodynamic parameters, and to determine if uric acid levels provide additional insights beyond traditional factors like ageing and hypertension in volunteers with low cardiovascular risk factors. Serum uric acid is known for its antioxidant properties, but it may also contribute to cardiovascular risk. MATERIALS AND METHODS: The study enrolled 40 male participants, divided into three groups based on age and blood pressure status. Group 1 comprised younger participants, group 2 included older individuals without hypertension, and group 3 consisted of older patients with hypertension. The study assessed endothelial function using laser Doppler imaging and measured acetylcholine- and sodium nitroprusside-induced hyperaemia. The heat microcirculatory response was also examined in the presence of L-NAME, an inhibitor of NOS synthase. The study evaluated oxidative stress and arterial stiffness by measuring allantoin, angiotensin II, Homocitrulline/Lysine, and Chloro-Tyrosine/Tyrosine ratios, as well as by performing non-invasive measurements of aortic augmentation indexes and carotid-femoral pulse wave velocity. RESULTS: The study found that uric acid levels did not differ significantly among the three groups. Augmentation indexes increased with ageing, but hypertension did not have an additional effect. Blood pressure and carotid-femoral pulse wave velocity differed among the groups, with the lowest values among younger participants and the highest values among older individuals with hypertension. Allantoin and angiotensin II levels did not differ among the groups. However, Homocitrulline/Lysine and Chloro-Tyrosine/Tyrosine ratios were significantly lower in young subjects. Correlation and multivariable analysis showed that uric acid had no effect on any of the studied parameters. Despite a strong association between ageing and systolic blood pressure with impaired endothelial function, oxidative stress, and arterial stiffness, only ageing retained a significant effect in the multivariable analysis. CONCLUSION: In healthy or hypertensive adults with normal renal function, serum uric acid appears to be a futile bystander in endothelial function, oxidative stress, and arterial stiffness, in contrast to ageing, which reduces NO bioavailability. This study suggests that traditional factors such as ageing and hypertension should be the focus of clinical assessment and management of cardiovascular risk, rather than uric acid levels.
Uncontrolled hypertension drives the global burden of increased cardiovascular disease (CVD) morbidity and mortality. Although high blood pressure (BP) is treatable and preventable, only half of the patients with hyperte...Uncontrolled hypertension drives the global burden of increased cardiovascular disease (CVD) morbidity and mortality. Although high blood pressure (BP) is treatable and preventable, only half of the patients with hypertension undergoing treatment have their BP controlled. The failure of polypharmacy to attain adequate BP control may be due to a lack of physiological response, however, medication non-adherence and clinician inertia to increase treatment intensity are critical factors associated with poor hypertension management. The long-time medication titration, lifelong drug therapy, and often multi-drug treatment strategy are frustrating when the BP goal is not achieved, leading to increased CVD risk and a substantial burden on the healthcare system. Growing evidence indicates that neurohumoral activation is critical in initiating and maintaining elevated BP and its adverse consequences. Over the past decades, device-based therapies targeting the mechanisms underlying hypertension pathophysiology have been extensively studied. Among these, robust clinical experience for hypertension management exists for renal denervation (RDN) and baroreflex activation therapy (BAT), carotid body denervation (CBD), central arteriovenous anastomosis, and to a lesser extent, deep brain stimulation. Future studies are warranted to define the role of device-based approaches as an alternative or adjunctive treatment option to treat hypertension.
PURPOSE: Hypertension should be confirmed with the use of home BP measurement (HBPM) or 24h ambulatory BP measurement (ABPM). The aim of our study was to compare measurements obtained by OBPM, HBPM and ABPM in individual...PURPOSE: Hypertension should be confirmed with the use of home BP measurement (HBPM) or 24h ambulatory BP measurement (ABPM). The aim of our study was to compare measurements obtained by OBPM, HBPM and ABPM in individuals with elevated OBPM participating in the population-based Swiss Longitudinal Cohort Study (SWICOS). MATERIAL AND METHODS: Participants with OBPM ≥140/90 mmHg assessed their BP using HBPM and ABPM. The cut-off for hypertension was ≥135/85 mmHg for HBPM, ≥130/80 mmHg for ABPM. White-coat hypertension (WCH) was defined as normal HPBM and ABPM in participants not taking antihypertensive drugs. Uncontrolled hypertension was defined as hypertension in HBPM or ABPM despite antihypertensive treatment. RESULTS: Of 72 hypertensive subjects with office BP ≥140/90 mmHg and valid measurements of HBPM and ABPM, 39 were males (aged 62.8 ± 11.8y), 33 were females (aged 57.4 ± 14.2y). Hypertension was confirmed with HBPM and ABPM in 17 participants (24%), with ABPM only in 24 further participants (33%), and with HBPM only in 2 further participants (3%). Participants who had hypertension according to ABPM but not HBPM were younger (59 ± 11 y versus 67 ± 16 y; < 0.001) and more frequently still working (83% versus 23%; < 0.001). The prevalence of WCH was 28%. Among the 32 subjects taking antihypertensive drugs, uncontrolled hypertension was found in 49%. CONCLUSION: This population-based study found a high prevalence of WCH and potential uncontrolled hypertension among individuals with elevated OBPM. This study, therefore, supports the ESH recommendations of complementing OBPM by ABPM or HBPM. The use of HBPM instead of ABPM for the confirmation of hypertension in individuals with elevated OBPM might lead to underdiagnosis and uncontrolled hypertension, in particular in the younger working population. In these individuals, this study suggests using ABPM instead of HBPM.
BACKGROUND/AIMS: The reactive hyperaemia index (RHI) assesses endothelial function, with a proposed cut-off of <1.67 for prevalent endothelial dysfunction (ED). However, uncertainties remain about whether this cut-off is...BACKGROUND/AIMS: The reactive hyperaemia index (RHI) assesses endothelial function, with a proposed cut-off of <1.67 for prevalent endothelial dysfunction (ED). However, uncertainties remain about whether this cut-off is age-dependent and applicable in healthy individuals. We aimed to explore ED in relation to age within a large population-based cohort of young to middle-aged, healthy individuals. METHODS: Within the Malmö Offspring Study, a total of 1812 subjects (50.9% women, mean age 48 ± 11 years) were included. Post-occlusion/pre-occlusion ratio of the pulsatile signal amplitudes in the non-dominant upper arm was used to calculate RHI by EndoPat®. ED was defined as RHI < 1.67. Multivariable regression models were used to explore associations between ED and age. RESULTS: Prevalent ED was found in 534 (29.5%) participants. In subjects aged ≤30 years, ED was present in 47.4% compared to 27.6% in subjects ≥30 years ( < 0.001). In multivariable logistic regression analyses, ED was associated with younger age ( < 0.001), higher BMI ( < 0.001) and current smoking ( < 0.001). No sex differences were observed. CONCLUSION: In a large healthy population, RHI < 1.67, an early marker of endothelial dysfunction, was more prevalent in younger individuals, implying that RHI might not be a suitable measure of endothelial function in individuals under 30 years of age. Our findings suggest that low RHI in young, healthy individuals may not necessarily indicate true ED but rather an artefact of the limited ability of young and healthy arteries to dilate post-occlusion. Therefore, the term "pseudo-ED" may be applicable to young individuals with low RHI values.
BACKGROUND: Isolated systolic hypertension (ISH) in middle-aged and elderly is associated with high cardiovascular risk, but no randomised controlled trial has assessed the effect of antihypertensive treatment in ISH usi...BACKGROUND: Isolated systolic hypertension (ISH) in middle-aged and elderly is associated with high cardiovascular risk, but no randomised controlled trial has assessed the effect of antihypertensive treatment in ISH using today's definition, i.e. systolic blood pressure (SBP) ≥140 mmHg and diastolic blood pressure (DBP) <90 mmHg. METHODS: A systematic review and meta-analysis of randomised controlled trials was performed. Studies with ≥1000 patient-years of follow-up, comparing more intensive versus less intensive BP targets, or active drug versus placebo, were included if the mean baseline SBP was ≥140 mmHg and the mean baseline DBP was <90 mmHg. The primary outcome was major adverse cardiovascular events (MACE). Relative risks from each trial were pooled in random-effects meta-analyses, stratified by baseline and attained SBP level. RESULTS: Twenty-four trials, including 113,105 participants (mean age 67 years; mean blood pressure 149/83 mmHg) were included in the analysis. Overall, treatment reduced the risk of MACE by 9% (relative risk 0.91, 95% confidence interval 0.88-0.93). Treatment was more effective if baseline SBP was ≥160 mmHg (RR 0.77, 95% CIs 0.70-0.86) compared to 140-159 mmHg (RR 0.92, 95% CIs 0.89-0.95; = 0.002 for interaction), but provided equal additional benefit across all attained SBP levels (RR 0.80, 95% CIs 0.70-0.92 for <130 mmHg, RR 0.92, 95% CIs 0.89-0.96 for 130-139 mmHg, and RR 0.87, 95% CIs 0.82-0.93 for ≥140 mmHg; = 0.070 for interaction). CONCLUSIONS: These findings support antihypertensive treatment of isolated systolic hypertension, regardless of baseline SBP, to target SBP <140 mmHg and even <130 mmHg if well tolerated.
PURPOSE: Hypertension is a major global health concern. Despite of efficient antihypertensive medications a low percentage of patients reach a blood pressure (BP) of <140/90. Nonadherence is a great concern in hypertensi...PURPOSE: Hypertension is a major global health concern. Despite of efficient antihypertensive medications a low percentage of patients reach a blood pressure (BP) of <140/90. Nonadherence is a great concern in hypertension treatment and patients' beliefs about medications has been shown to have a strong impact on adherence. The objective of this study is to examine beliefs about medications and its impact on BP treatment in a group of Swedish primary healthcare patients treated for hypertension with or without an E-health platform. MATERIALS AND METHOD: In a randomised unblinded controlled trial, 949 patients with hypertension from Swedish primary health care centres were included. The intervention group used a web-based system to support self-management of hypertension for eight weeks. Beliefs about medication questionnaire (BMQ) were administered to all patients at inclusion, 8-week follow up and 1-year follow up. RESULTS: Data were collected from the 862 patients who completed the trial. No statistically significant difference was found in BMQ-scores between the intervention and the control group. An association between lower scores in the BMQ subsection 'General-Harm' and achieving target BP of <140/90 mmHg were noted ( = 0.021). CONCLUSION: This study shows a significant association between beliefs about medication and BP levels, on hypertensive patients in the Swedish primary care setting, in only one out of four subsections of the BMQ. The intervention did not have a significant effect on changing patients' beliefs about medication. Further emphasis on patients' beliefs about medications could be useful in the clinical setting.
In secondary hypertension, elevated blood pressure is caused by a known and/or potentially treatable underlying disease.Although the prevalence of secondary hypertension depends on the patient population and the thorough...In secondary hypertension, elevated blood pressure is caused by a known and/or potentially treatable underlying disease.Although the prevalence of secondary hypertension depends on the patient population and the thoroughness of applied diagnostic approaches, arterial hypertension is classified in 90 to 95% as primary in nature. In young patients, individuals without a family history of hypertension, late onset of hypertension or worsening of a previous well-controlled hypertension as well as in patients who have a difficult to treat hypertension, the prevalence of secondary hypertension is significantly higher.Because the identification and the specific therapy of secondary hypertension may result in normalisation or improvement of elevated blood pressure in many cases, a targeted diagnostics is of great importance.
Individual socioeconomic status is associated with increased arterial stiffness, but limited data are available on the relations of neighbourhood deprivation with this vascular measure. We prospectively examined whether...Individual socioeconomic status is associated with increased arterial stiffness, but limited data are available on the relations of neighbourhood deprivation with this vascular measure. We prospectively examined whether neighbourhood deprivation in childhood and adulthood predicts arterial stiffness indicated by pulse wave velocity (PWV). The study population comprised 1,761 participants aged 3-18 years at baseline (1980) from the longitudinal Cardiovascular Risk in Young Finns cohort study. PWV was measured in 2007 by whole-body impedance cardiography at ages 30-45 years. Cumulative lifetime neighbourhood deprivation was assessed using data from socioeconomic circumstances in participants' lifetime residential neighbourhoods, categorised as low versus high deprivation. High deprivation in childhood and adulthood was associated with higher PWV in adulthood after adjustment for age, sex, and place of birth (mean difference = 0.57 m/s, 95%CI = 0.26-0.88, P for trend = 0.0004). This association was attenuated but remained statistically significant after further adjustment for childhood parental socioeconomic status and adulthood individual socioeconomic status (mean difference = 0.37 m/s, 95%CI = 0.05-0.70, P for trend 0.048). Also, low individual socioeconomic status in adulthood was associated with higher PWV when adjusted for age, sex, place of birth, parental socioeconomic status in childhood, and lifetime neighbourhood deprivation (mean difference = 0.54 m/s, 95%CI = 0.23-0.84, P for trend 0.0001). These findings suggest that lifetime neighbourhood deprivation and low adulthood socioeconomic status are independent risk factors for increased arterial stiffness in adulthood.
Arterial hypertension (HT) is a main, potentially reversible cardiovascular risk factor. Long lasting HT leads to hypertension mediated organ damage (HMOD) of heart, vascular bed, and kidneys. Assessment of HMOD is a sta...Arterial hypertension (HT) is a main, potentially reversible cardiovascular risk factor. Long lasting HT leads to hypertension mediated organ damage (HMOD) of heart, vascular bed, and kidneys. Assessment of HMOD is a standard diagnostic procedure in hypertensive adults and presence of HMOD is associated with increased cardiovascular risk. The assessment of main HMOD markers includes the assessment of left ventricular mass, carotid intima-media thickness, arterial stiffness expressed as pulse wave velocity, and assessment of microcirculation. In contrast to adults, proper interpretation of obtained results of HMOD must be adjusted to age and sex referential values. In the last two decades, numerous studies describing HMOD in children with hypertension have been published, including meta-analyses evaluating various methods of HMOD assessment. Here, we present current state of the art and discuss recommendations on HMOD evaluation in hypertensive children.
Pre-treatment prediction of individual blood pressure (BP) response to anti-hypertensive medication is important to determine the specific regimen for promptly and safely achieving a target BP. This study aimed to develo...Pre-treatment prediction of individual blood pressure (BP) response to anti-hypertensive medication is important to determine the specific regimen for promptly and safely achieving a target BP. This study aimed to develop supervised machine learning (ML) models for predicting patient-specific treatment effects using 24-hour ambulatory BP monitoring (ABPM) data.. A total of 1,129 patients who had both baseline and follow-up ABPM data were randomly assigned into training, validation and test sets in a 3:1:1 ratio. Utilising the features including clinical and laboratory findings, initial ABPM data, and anti-hypertensive medication at baseline and at follow-up, ML models were developed to predict post-treatment individual BP response. Each case was labelled by the mean 24-hour and daytime BPs derived from the follow-up ABPM. At baseline, 616 (55%) patients had been treated using mono or combination therapy with 45 anti-hypertensive drugs and the remaining 513 (45%) patients had been untreated (drug-naïve). By using CatBoost, the difference between predicted vs. measured mean 24-hour systolic BP at follow-up was 8.4 ± 7.0 mm Hg (% difference of 6.6% ± 5.7%). The difference between predicted vs. measured mean 24-hour diastolic BP was 5.3 ± 4.3 mm Hg (% difference of 6.8% ± 5.5%). There were significant correlations between the CatBoost-predicted vs. the ABPM-measured changes in the mean 24-hour Systolic ( = 0.74) and diastolic ( = 0.68) BPs from baseline to follow-up. Even in the patients with renal insufficiency or diabetes, the correlations between CatBoost-predicted vs. ABPM-measured BP changes were significant. ML algorithms accurately predict the post-treatment ambulatory BP levels, which may assist clinicians in personalising anti-hypertensive treatment.
Yaneva-Sirakova T, Petrov I, Traykov L
… +10 more, Coca A, Cunha PG, Gasecki D, Farukh B, Kotsis V, Vicario A, Manios E, Sierra C, Hering D, ESH Working Group on Hypertension and Brain
BACKGROUND: Primary aldosteronism (PA) is considered the number one aetiology for secondary hypertension. Apart from confirmatory tests and localisation of PA determined by computed tomography (CT), adrenal venous sampli...BACKGROUND: Primary aldosteronism (PA) is considered the number one aetiology for secondary hypertension. Apart from confirmatory tests and localisation of PA determined by computed tomography (CT), adrenal venous sampling (AVS) is used to define whether aldosterone hypersecretion occurs inside one or both adrenal glands. However, even correctly-performed AVS may lead to undiagnostic results such as apparent bilateral adrenal suppression (apparent bilateral aldosterone suppression), in which the adrenal aldosterone-to-cortisol ratios (AC ratios) are decreased bilaterally compared to the peripheral blood sample, with several causes contributing to it. CASE DESCRIPTION: Here, we describe the case of a 48-year-old man who was referred to our department for further investigation with a history of refractory hypertension, hypokalaemia, and aortic dissection. His hypertension and hypokalaemia were initially attributed to ectopic aldosteronoma due to his adrenal CT scan and AVS results. However, the correct diagnosis of an adenoma with duplicated right adrenal veins (duplicated adrenal veins) due to apparent bilateral aldosterone suppression was confirmed during surgery. CONCLUSION: AVS is the gold standard accepted for PA subtyping, but sometimes when apparent bilateral aldosterone suppression is present, it can give ambiguous results. Duplicated right adrenal veins, may impact results, thus, AVS may not accurately provide evidence of unilateral hypersecretion for all PA patients. Repeat AVS or adrenal surgery can provide worthwhile diagnostic conclusions.
PURPOSE: Hypertension is a major cardiovascular (CV) risk factor in ankylosing spondylitis (AS) patients. Less is known about the prevalence of CV organ damage in relation to hypertension status in AS patients. MATERIALS...PURPOSE: Hypertension is a major cardiovascular (CV) risk factor in ankylosing spondylitis (AS) patients. Less is known about the prevalence of CV organ damage in relation to hypertension status in AS patients. MATERIALS AND METHODS: CV organ damage was assessed by echocardiography, carotid ultrasound and pulse wave velocity (PWV) by applanation tonometry in 126 AS patients (mean age 49 ± 12 years, 39% women) and 71 normotensive controls (mean age 47 ± 11 years, 52% women). CV organ damage was defined as presence of abnormal left ventricular (LV) geometry, LV diastolic dysfunction, left atrial (LA) dilatation, carotid plaque or high pulse wave velocity (PWV). RESULTS: Thirty-four percent of AS patients had hypertension. AS patients with hypertension were older and had higher C-reactive protein (CRP) levels compared to AS patients without hypertension and controls ( < 0.05). The prevalence of CV organ damage was 84% in AS patients with hypertension, 29% in AS patients without hypertension and 30% in controls ( < 0.001). In multivariable logistic regression analyses, having hypertension was associated with a fourfold increased risk of CV organ damage independent of age, presence of AS, gender, body mass index, CRP, and cholesterol (odds ratio (OR) 4.57, 95% confidence interval (CI) 1.53 to 13.61, = 0.006). In AS patients, presence of hypertension was the only covariable significantly associated with presence of CV organ damage (OR 4.40, 95% CI 1.40 to 13.84, = 0.011). CONCLUSIONS: CV organ damage in AS was strongly associated with hypertension, pointing to the importance of guideline-based hypertension management in AS patients.
A limited number of studies have suggested a nonlinear association between spot urine (SU) sodium concentration and office blood pressure (BP). We examined how SU sodium concentration and dietary salt obtained from a foo...A limited number of studies have suggested a nonlinear association between spot urine (SU) sodium concentration and office blood pressure (BP). We examined how SU sodium concentration and dietary salt obtained from a food frequency questionnaire are associated with more accurately measured home BP in a large, nationwide population sample. We included 1398 participants in cross-sectional and 851 participants in 11-year longitudinal analyses. We investigated associations between baseline salt/sodium variables and (i) baseline and follow-up home BP; and (ii) prevalent and incident hypertension with linear and logistic regression models. We observed positive associations (β ± standard error) between salt/sodium variables and BP in unadjusted models. SU sodium concentration associated with baseline systolic (0.04 ± 0.01, < 0.001) and diastolic (0.02 ± 0.01, < 0.001) BP and follow-up systolic (0.03 ± 0.01, = 0.003) and diastolic (0.02 ± 0.01, < 0.001) BP. Dietary salt intake was associated with baseline (0.52 ± 0.19, = 0.008) and follow-up (0.57 ± 0.20, = 0.006) systolic BP. Compared to the lowest quintile of SU sodium concentration, the highest quintile had greater odds of prevalent hypertension (odds ratio [OR] 1.57, 95% confidence interval [CI] 1.12-2.19) and the second highest quintile with incident hypertension (OR 1.86, 95% CI 1.05-3.34). Unadjusted odds of incident hypertension were higher in the highest as compared to the lowest quintile of dietary salt intake (OR 1.83, 95% CI 1.01-3.35). After adjustments for sex, age, plasma creatinine concentration and alcohol intake, none of the aforementioned associations remained statistically significant. We found no evidence of a J-shaped association between the salt/sodium variables and BP or hypertension. SU sodium concentration and dietary salt intake are associated with home BP and hypertension only in some of the unadjusted models. Our results underscore that feasible estimation of sodium intake remains challenging in epidemiology.
17 α-hydroxylase/17,20-lyase deficiency (17-OHD) is an extremely rare autosomal recessive disorder that typically causes hypertension, hypokalaemia, primary amenorrhoea, and the absence of secondary sex characteristics i...17 α-hydroxylase/17,20-lyase deficiency (17-OHD) is an extremely rare autosomal recessive disorder that typically causes hypertension, hypokalaemia, primary amenorrhoea, and the absence of secondary sex characteristics in 46,XX individuals. Partial 17-OHD is even rarer than complete 17-OHD and is prone to missed diagnosis due to its subtler symptoms. The aim of this study was to help early detection and diagnosis of partial 17-OHD. We present a case of a 41-year-old female (46,XX) patient with partial 17-OHD caused by a novel missense mutation, c.391 A > C (p.T131P). This patient experienced hypertension, hypokalaemia and adrenal hyperplasia, but did not present with primary amenorrhoea or absence of secondary sex characteristics. Initially, she was misdiagnosed and underwent right and left adrenalectomy, but the procedures were ineffective. Afterward, she received a one-month treatment of 0.5 mg dexamethasone, which greatly relieved her symptoms. Additionally, we reviewed reports of thirteen other patients with partial 17-OHD in 46,XX individuals from the literature, totalling fourteen probands. We found that primary amenorrhoea, hypertension, hypokalaemia, and ovarian cysts accounted for 15.4%, 42.9%, 38.5%, and 72.7% of these patients, respectively. In contrast, elevated serum progesterone was present in all patients. Based on our literature review, the absence of primary amenorrhoea, hypertension or hypokalaemia cannot rule out suspicion for 17-OHD in 46,XX individuals. However, an elevation in serum progesterone levels is a highly sensitive indicator for diagnosing 17-OHD.