11β-Hydroxysteroid dehydrogenase deficit: a rare cause of arterial hypertension. Diagnosis and therapeutic approach in two young brothers

1996 ◽  
Vol 135 (2) ◽  
pp. 238-244 ◽  
Author(s):  
Micheline Gourmelen ◽  
Irène Saint-Jacques ◽  
Gilles Morineau ◽  
Hany Soliman ◽  
René Julien ◽  
...  
Keyword(s):  
Plasma Renin Activity ◽  
Arterial Hypertension ◽  
Therapeutic Approach ◽  
Plasma Renin ◽  
Clinical History ◽  
Hydroxysteroid Dehydrogenase ◽  
Renin Activity ◽  
Activity Levels ◽  
Urinary Elimination ◽  
Hypertension Diagnosis

Gourmelen M. Saint-Jacques I, Morineau G. Soliman H, Julien R, Fiet J. 11β-Hydroxysteroid dehydrogenase deficit: a rare cause of arterial hypertension. Diagnosis and therapeutic approach in two young brothers. Eur J Endocrinol 1996;135:238–44. ISSN 0804–4643 We report the clinical history and results of endocrine investigations in two brothers born to consanguineous parents, who presented with hypokalemia and arterial hypertension when they were aged 2 and 6 years. The hormonal serum assay results, including extremely low values for aldosterone and plasma renin activity, favored the existence of apparent mineralocorticoid excess. A diagnosis of 11β-hydroxysteroid dehydrogenase (11β-HSD) deficiency was made, based on assays of the hydrogenated urinary metabolites of cortisol and cortisone, as well as of corticosterone and dehydrocorticosterone. Indeed we found a very low rate of urinary elimination of cortisone metabolites: tetrahydrogenated cortisone was reduced to between 0.10 and 30 μmol/24 h, which is 15–100 times lower than the normal rate; hexahydrogenated cortolones a and β were found to be 7-to 20-fold lower than normal levels; and the 11-keto-17-ketosteroid derivatives of cortisone were also reduced. Urinary elimination of the cortisol-reduced metabolites 5β- and 5α-tetrahydrogenated cortisol were slightly reduced or normal. These results argue in favor of a deficit in the enzyme 11β-HSD, which oxidizes cortisol into cortisone. A moderate defect in the conversion of cortisol into 5β-THF compared to normal conversion into 5α-THF was also found. With respect to corticosterone metabolism, we demonstrated the presence of a defect in the oxidation of that steroid into dehydrocorticosterone, also due to the deficit in 11β-HSD. Arterial hypertension and hypokalemia were corrected by treatment with dexamethasone, concomitantly with correction of the low aldosterone and plasma renin activity levels. On the other hand, during this treatment, urinary concentrations of the metabolites of cortisol. cortisone and corticosterone were only moderately affected. Jean Fiet, Laboratoire de Biologie Hormonale, Hôpital Saint-Louis, I Avenue Claude Vellefaux, 75475 Paris Cedex 10, France

scholarly journals The relationship between plasma renin activity and serum lipid profiles in patients with primary arterial hypertension

2018 ◽  
Vol 19 (4) ◽  
pp. 147032031881002 ◽  
Author(s):  
Tomasz Pizoń ◽  
Marek Rajzer ◽  
Wiktoria Wojciechowska ◽  
Małgorzata Wach-Pizoń ◽  
Tomasz Drożdż ◽  
...  
Keyword(s):  
Plasma Renin Activity ◽  
Arterial Hypertension ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Plasma Renin ◽  
Serum Levels ◽  
Renin Activity ◽  
Serum Aldosterone ◽  
Primary Arterial Hypertension ◽  
Aldosterone To Renin Ratio

Introduction: The aim of the study was to evaluate clinical and biochemical differences between patients with low-renin and high-renin primary arterial hypertension (AH), mainly in reference to serum lipids, and to identify factors determining lipid concentrations. Materials and methods: In untreated patients with AH stage 1 we measured plasma renin activity (PRA) and subdivided the group into low-renin (PRA < 0.65 ng/mL/h) and high-renin (PRA ⩾ 0.65 ng/mL/h) AH. We compared office and 24-h ambulatory blood pressure, serum aldosterone, lipids and selected biochemical parameters between subgroups. Factors determining lipid concentration in both subgroups were assessed in regression analysis. Results: Patients with high-renin hypertension ( N = 58) were characterized by higher heart rate ( p = 0.04), lower serum sodium ( p < 0.01) and aldosterone-to-renin ratio ( p < 0.01), and significantly higher serum aldosterone ( p = 0.03), albumin ( p < 0.01), total protein ( p < 0.01), total cholesterol ( p = 0.01) and low-density lipoprotein cholesterol (LDL-C) ( p = 0.04) than low-renin subjects ( N = 39). In univariate linear regression, only PRA in the low-renin group was in a positive relationship with LDL-C ( R2 = 0.15, β = 1.53 and p = 0.013); this association remained significant after adjustment for age, sex, and serum albumin and aldosterone concentrations. Conclusions: Higher serum levels of total and LDL-C characterized high-renin subjects, but the association between LDL-C level and PRA existed only in low-renin primary AH.

scholarly journals The relationship between vitamin D levels and plasma renin activity in patients with arterial hypertension

2017 ◽  
Vol 95 (9) ◽  
pp. 803-809
Author(s):  
Lyudmila V. Yankovskaya ◽  
V. A. Snezhitskiy ◽  
V. I. Novogran
Keyword(s):  
Vitamin D ◽  
Plasma Renin Activity ◽  
Arterial Hypertension ◽  
Negative Correlation ◽  
Plasma Renin ◽  
Left Ventricular ◽  
Renin Activity ◽  
Left Ventricular Ejection ◽  
Blood Calcium ◽  
Vitamin D Levels

The aim of the study was to evaluate plasma renin activity (PRA) and its relationship with the level of 25-hydroxyvitamin D (25 (OH) D) in the blood in patients with stage II arterial hypertension (AH). We examined 228 patients (186 women and 42 men, mean age 52,4 ± 7,6 years). They were divided into two groups, one (n = 51) with optimal vitamin D levels (25 (OH) D ≥30 ng/ml), the other (n = 177) with D-hypovitaminosis (25 (OH) D <30 ng/ml). In this group, PRA (0,88 [0,61, 1,80] ng/ml/h) and the level of parathyroid hormone (38.6 [26.3; 52.1] pg/ ml) were higher (p <0,05), than in the former group (0,56 [0,38; 1,09] ng/ml/h and 29.8 [21.6; 44.1] pg/ml respectively). In group 2, the nitrate/nitrite level (18,57 ± 6,56 µmol/l) and blood calcium (2,34 ± 0,15 mmol/l) were lower (p <0.05) than in group 1 (21,57 ± 6,92 µmol/l and 2.40 ± 0.18 mmol/l respectively). No significant differences in results of echocardiography between the groups was apparent. We documented negative correlation between PRA and serum 25(OH)D level. PRA showed weak negative correlation with endothelium-dependent vasodilation (R = -0,15; p = 0,05); this relationship became even more evident (R = -0,24; p = 0.007) in patients with D-hypovitaminosis but was insignificant in those having the optimal level of vitamin D. It suggests the influence of vitamin D on vascular endothelial function and PRA interaction with endothelium. PRA shows positive correlation with the left ventricular wall thickness, left ventricular myocardial mass and negative correlation with the left ventricular ejection fraction, both being more pronounced in patients with D-hypovitaminosis and reflecting the influence of PRA on the structural and functional state of the myocardium.

scholarly journals Association Between Plasma Renin Activity with Hypertension in Children with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Enzyme Deficiency

2021 ◽  
Author(s):  
Siska Mayasari Lubis ◽  
Eka Lakshmi Hidayati ◽  
Frida Soesanti ◽  
Bambang Tridjaja AAP
Keyword(s):  
Plasma Renin Activity ◽  
Congenital Adrenal Hyperplasia ◽  
Plasma Renin ◽  
Cross Sectional Study ◽  
Renin Activity ◽  
Enzyme Deficiency ◽  
Activity Levels ◽  
Adrenal Hyperplasia ◽  
Cross Sectional ◽  
Salt Wasting

Abstract BackgroundHypertension is an uncommon manifestation of congenital adrenal hyperplasia due to 21-hydroxylase enzyme deficiency (21-OHD CAH). Nevertheless, it is necessary to continuously be aware of hypertension incidence in 21-OHD CAH patients and its possible causes. Conflicting results regarding the role of PRA have been reported. This study aims to evaluate the association between plasma renin activity levels (PRA) with hypertension in 21-OHD CAH children. MethodsWe did an observational analytic study with a cross-sectional study design. The subjects were 21-OHD CAH children, aged >6 months to 18 years, selected by consecutive sampling and then compared between 21-OHD CAH with hypertension and non-hypertension groups. We gathered 40 subjects, 20 subjects in hypertension and 20 subjects in non-hypertension groups.ResultsThere were 16 from 27 (59.3%) and 4 from 13 subjects (30.8%) with hypertension in salt-wasting and simple virilizing type, respectively. There was a significant mean difference in PRA levels between hypertension and non-hypertension groups in salt wasting patients (p=0,016). The risk of hypertension in salt wasting patients with low PRA levels was 1,09 times after controlling for sex, 17-OHP levels, and the last fludrocortisone dose. The last dose of hydrocortisone had a significant relationship with the incidence of hypertension in salt wasting patients. ConclusionsThis study concludes that hypertension in 21-OHD CAH patients during the study period was 32%. The risk of hypertension in salt wasting patients with low PRA levels was 1.09 times after being controlled for sex, 17 OHP level, and the last dose of fludrocortisone.

scholarly journals Plasma renin activity, serum aldosterone concentration and selected organ damage indices in essential arterial hypertension

2021 ◽  
Vol 17 (1) ◽  
pp. 9-18
Author(s):  
Tomasz Pizoń ◽  
Marek Rajzer ◽  
Wiktoria Wojciechowska ◽  
Tomasz Drożdż ◽  
Dorota Drożdż ◽  
...  
Keyword(s):  
Plasma Renin Activity ◽  
Arterial Hypertension ◽  
Plasma Renin ◽  
Organ Damage ◽  
Renin Activity ◽  
Plasma Sodium ◽  
Damage Indices ◽  
Serum Aldosterone ◽  
Lower Egfr ◽  
Aldosterone To Renin Ratio

IntroductionThe aim of this study was to assess the relations between plasma renin activity (PRA), serum aldosterone concentration (ALDO) and selected asymptomatic organ damage (AOD) indices in mild primary arterial hypertension (AH).Material and MethodsWe measured PRA, ALDO, and selected AOD indices (carotid-femoral pulse wave velocity (cfPWV), central aortic pulse pressure (cPP), estimated glomerular filtration rate (eGFR)) in 122 patients with untreated AH.ResultsPatients with high PRA (≥ 0.65 ng/ml/h) were characterized by lower plasma sodium and aldosterone to renin ratio (ARR), higher ALDO, but a similar level of AOD indices compared to patients with low PRA. cfPWV (p = 0.04) and cPP (p = 0.019) increased with ARR, while eGFR decreased with ALDO (p = 0.008). Only eGFR was independently correlated with ALDO. In subjects with simultaneously high PRA and ARR values, we found significantly higher cfPWV (p = 0.02) and cPP (p = 0.04) and lower eGFR (p = 0.02) than in those with high PRA but low ARR values.ConclusionsAssessment of the influence of the renin-angiotensin-aldosterone system (RAAS) on AOD should include the relationship between renin and aldosterone. The PRA itself has no predictive value for AOD. More advanced arterial stiffness and renal impairment are associated with increased PRA and ARR. The RAAS activity might be useful in AOD prediction and hypertension severity assessment.

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