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- W4387586615 abstract "Context: Arterial hypertension (AHT) is one of the most frequent pathologies in the general population. Subtypes of essential hypertension characterized by low-renin levels allowed the identification of two different clinical entities: aldosterone-mediated mineralocorticoid receptor (MR) activation and cortisol-mediated MR activation. The spectrum of cortisol-mediated MR activation includes the classic apparent mineralocorticoid excess (AME) to milder (nonclassic, NC) forms of AME, the latter with a much higher prevalence than classic AME but different phenotype and genotype. AME is a rare autosomal recessive disorder caused by the presence of a severe deficiency of 11βHSD2 activity, mainly due to a multiple pathogenic variant in the HSD11B2 gene. The clinical features are childhood onset hypertension, hypokalemia, and alkalosis with low plasma renin, but unlike primary aldosteronism (PA), AME displays low aldosterone levels in the presence of a high serum or urinary cortisol/cortisone (F/E) ratio. NC-AME is mainly related to partial 11βHSD2 deficiency associated with genetic variations and epigenetic modifications (first hit) and potential additive actions of endogenous or exogenous inhibitors (i.e., glycyrrhetinic acid-like factors (GALFS)) and other factors (i.e., age, high sodium intake) (second hit). Subjects with NC-AME are characterized by high F/E ratio and low E levels, normal and elevated blood pressure, low-renin and increased urinary potassium excretion and microalbuminuria. Subjects with the AME condition should benefit with low-sodium diet, potassium supplementation and monotherapy with MR antagonists." @default.
- W4387586615 created "2023-10-13" @default.
- W4387586615 creator A5010184485 @default.
- W4387586615 creator A5039353472 @default.
- W4387586615 creator A5059506285 @default.
- W4387586615 creator A5085935944 @default.
- W4387586615 date "2023-01-01" @default.
- W4387586615 modified "2023-10-14" @default.
- W4387586615 title "Apparent Mineralocorticoid Excess" @default.
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