Apparent Mineralocorticoid Excess Syndrome: Case Report.

Abstract

Apparent Mineralocorticoid Excess (AME) syndrome is a rare form of high-blood pressure syndrome caused by genetic mutations in the 11b-hydroxysteroid dehydrogenase type 2 (HSD11B2) gene, inherited in an autosomal recessive manner. The condition can be either congenital or acquired. This report presents two cases of AME in children from consanguineous families identified through clinical assessment and whole-exome sequencing (WES). Symptoms included high blood pressure, hypokalemia, and metabolic alkalosis. AME syndrome was confirmed by WES, which revealed a homozygous missense pathogenic mutation c.622C>T p.(Arg208Cys) in exon 3 of the HSD11B2 gene. Treatment with spironolactone, and potassium chloride alone was not effective, so low-dose dexamethasone was added. Post-treatment, both patients showed significant improvement in their blood pressure and electrolyte levels. Diagnosis of AME syndrome can is often challenging because it is an extremely rare autosomal recessive disorder. Only five cases have been reported in Saudi Arabia, and only four case studies discussed treatment plans. This case report provides additional data to support the current literature and treatment protocols.