%0 Journal Article
%T A Rare Encounter: Severe Hypertension and Hypokalemia Due to an Apparent Mineralocorticoid Excess
%A Kamel El-Reshaid
%A Emad Abdullah
%J Open Journal of Nephrology
%P 167-173
%@ 2164-2869
%D 2025
%I Scientific Research Publishing
%R 10.4236/ojneph.2025.152016
%X <b>Background</b><b>:</b> Apparent mineralocorticoid excess syndrome (AME) is an extremely rare autosomal-recessive genetic disorder due to deficiency in 11-beta-hydroxysteroid dehydrogenase enzyme type 2 isoform (11-beta-HSD2) that converts cortisol to cortisone. The resultant high cortisol level (100-fold higher than aldosterone) avidly binds to and activates the mineralocorticoid receptors leading to hypertension and hypokalemia. <b>Case</b><b>:</b> A 14-year-old girl presented with severe hypertension, unprovoked hypokalemia with high urinary potassium output, and metabolic alkalosis. She did not have a history of parenteral disease, chronic licorice ingestion and lung tumors by FDG-PET scan. Diagnosis was established by; 1) a high 24-hour urinary cortisol to cortisone ratio (&gt;18), 2) low serum levels of renin, aldosterone, 11-beta-HSD and adrenocorticotrophic hormones, and 3) genetic testing showing homozygous pathogenic variants in HSD11B2 gene. <b>Treatment</b><b>:</b> With low-salt diet and daily Amlodipine 5 mg, Amiloride 50 mg and Spironolactone 50 mg, stabilized her disorders up to 6 months of follow-up. <b>Conclusion</b><b>:</b> AME should be considered in children with severe hypertension and unprovoked hypokalemia.
%K Apparent Mineralocorticoid Excess Syndrome
%K Hypokalemia
%K Hypertension
%K Child
%K Genetic Testing
%K 11-Bet-Hydroxysteroid Dehydrogenase Enzyme
%U http://www.scirp.org/journal/PaperInformation.aspx?PaperID=142541