Syndrome of imaginary excess of mineralocorticoids: a clinical case

Abstract

The syndrome of apparent  mineralocorticoid excess (AME) is a rare genetic disease characterized by  juvenile hypertension, hypokalemia, suppression of renin and aldosterone. AME syndrome is caused by a mutation in the HSD11B2 gene, which encodes 11ß-hydroxysteroid dehydrogenase type 2, that converts cortisol into cortisone.The  purpose of the article is to describe a clinical case  of genetically confirmed (mutation C.911A>G of the HSD11B2 gene) AME  syndrome. The disease manifested in the first years of life; the patient was prescribed mineralocorticoid receptor antagonists, potassium preparations, potassium-sparing diuretics, and other antihypertensive therapy. Due to the absence of normotonia and normokalemia, dexamethasone has been prescribed since the age  of 12. Due to uncontrolled arterial hypertension and hypokalemia, complications  developed (medullary nephrocalcinosis, myocardial remodeling), and prolonged dexamethasone intake led  to a slowdown in puberty and a decrease in bone  mineral density.