Apparent mineralocorticoid excess syndrome: difficulties of diagnostics and treatment. Review and case report

Аpparent mineralocorticoid excess syndrome (AMEs) is autosomal recessive severe hypertension associated with low serum renin activity and aldosterone level, hypokalemia, metabolic alkalosis, hypercalciuria and nephrocalcinosis. This disease refers to the group of monogenic forms of hypertension and is associated with mutations in the HSD11B2 gene, encoding the type 2 11β-hydroxysteroid dehydrogenase that participates in cortisol metabolism. Here, we present a clinical case of a child with typical AMEs characteristics. Sequencing of all exons of the HSD11B2 gene responsible for AMEs revealed novel homozygous mutation c.991G>A (p.A331T) in exon 5. Stage-by-stage hypotensive therapy with monotherapy and combinations of calcium channel blockers, angiotensin II receptor blockers, thiazide diuretics, and the use of antagonists of mineralocorticoid receptors, potassium-sparing diuretics was insufficient for the correction of hypertension in the child. Only the appointment of low doses of steroids - dexamethasone, aimed to reducing the endogenous production of cortisol, made it possible to achieve a persistent hypotensive effect and to normalize the electrolyte and acid-base equilibrium in the patient’s blood.

синдром мнимого избытка минералокортикоидов, гипорениновая артериальная гипертензия, гипокалиемия, метаболический алкалоз, дексаметазон, эплеренон, apparent mineralocorticoid excess syndrome, hypertension with low renin activity, hypokalemia, metabolic alkalosis, dexamethasone, eplerenone

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