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Classic and “non-classic” apparent mineralocorticoid excess
(Elsevier, 2025) Baudrand, Rene; Carvajal, Cristian; Tapia-Castillo, Alejandra; Uslar, Thomas; Fardella, Carlos
Hypertension is highly prevalent in the general population. Up to 1/3 of patients display low-renin levels due to aldosterone-mediated mineralocorticoid receptor (MR) activation or cortisol-mediated MR activation. The spectrum of cortisol-mediated MR activation includes the classic apparent mineralocorticoid excess (AME), Cushing syndrome or milder (non-classic) forms of AME, the latter with a much higher prevalence and subtle phenotype. Classic AME is a rare autosomal recessive disorder caused by the presence of a severe dominant autosomal deficiency of 11bHSD2 gene. Non-classic -AME (NC-AME) is mainly associated with partial 11bHSD2 deficiency due to milder genetic variations or epigenetic modifications plus potential actions of endogenous or exogenous inhibitors. Treatment aims to ameliorate MR activation with low-sodium diet and MR antagonists.