scholarly journals Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Anastasiya A. Kozina ◽  
Tatiana A. Trofimova ◽  
Elena G. Okuneva ◽  
Natalia V. Baryshnikova ◽  
Varvara A. Obuhova ◽  
...  
Keyword(s):  
Arterial Hypertension ◽  
Sodium Channel ◽  
Metabolic Alkalosis ◽  
Novel Mutation ◽  
Specific Treatment ◽  
Plasma Renin ◽  
Epithelial Sodium Channel ◽  
Renin Activity ◽  
Monogenic Disease ◽  
Liddle Syndrome

Abstract Background Liddle syndrome is a monogenic disease with autosomal dominant inheritance. Basic characteristics of this disease are hypertension, reduced concentration of aldosterone and renin activity, as well as increased excretion of potassium leading to low level of potassium in serum and metabolic alkalosis. The cause of Liddle syndrome is missense or frameshift mutations in SCNN1A, SCNN1B, or SCNN1G genes that encode epithelial sodium channel subunits. Case presentation We describe a family with Liddle syndrome from Russia. 15-year-old proband has arterial hypertension, hypokalemia, hyporeninemia, metabolic alkalosis, but aldosterone level is within the normal range. At 12 years of age, arterial hypertension was noticed for the first time. We identified novel frameshift mutation c.1769delG (p.Gly590Alafs) in SCNN1G, which encodes the γ subunit of ENaC in vertebrates. The father and younger sister also harbor this heterozygous deletion. Treatment with amiloride of proband and his sister did not normalize the blood pressure, but normalized level of plasma renin activity. Conclusions Our results expand the mutational spectrum of Liddle syndrome and provide further proof that the conserved PY motif is crucial to control of ENaC activity. Genetic analysis has implications for the management of hypertension, specific treatment with amiloride and counselling in families with Liddle syndrome.

A novel frameshift mutation of epithelial sodium channel β-subunit leads to Liddle syndrome in an isolated case

2015 ◽  
Vol 82 (4) ◽  
pp. 611-614 ◽  
Author(s):  
Kun-Qi Yang ◽  
Chao-Xia Lu ◽  
Yan Xiao ◽  
Ya-Xin Liu ◽  
Xiong-Jing Jiang ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Frameshift Mutation ◽  
Epithelial Sodium Channel ◽  
Β Subunit ◽  
Liddle Syndrome

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 Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome

2016 ◽  
Vol 2 (6) ◽  
pp. a001255 ◽  
Author(s):  
Linda M. Polfus ◽  
Eric Boerwinkle ◽  
Richard A. Gibbs ◽  
Ginger Metcalf ◽  
Donna Muzny ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Early Onset ◽  
Epithelial Sodium Channel ◽  
Β Subunit ◽  
Liddle Syndrome ◽  
Whole Exome

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

Novel mutation in the epithelial sodium channel causing type I pseudohypoaldosteronism in a patient misdiagnosed with cystic fibrosis

2012 ◽  
Vol 171 (6) ◽  
pp. 997-1000 ◽  
Author(s):  
Francisco Mora-Lopez ◽  
Manuel Bernal-Quiros ◽  
Alfonso M. Lechuga-Sancho ◽  
Jose Luis Lechuga-Campoy ◽  
Nestor Hernandez-Trujillo ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Sodium Channel ◽  
Novel Mutation ◽  
Epithelial Sodium Channel ◽  
Type I

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.

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