title: Apparent mineralocorticoid excess: time of manifestation and complications despite treatment.
abstract: Here we describe the case of a patient followed from birth because of a positive family history for apparent mineralocorticoid excess (AME) in an older brother. The patient, a girl, had normal serum electrolyte and blood pressure measurements in the first months after birth. Not until the age of 11 months did she develop anorexia and failure to thrive in combination with hypertension, hypokalemia, and metabolic alkalosis, which are consistent with the diagnosis of AME. This diagnosis was confirmed by mutation analysis of the HSD11B2 gene (C1228T). Treatment with amiloride and furosemide electrolyte disturbances normalized her blood pressure. At the age of 19 years she unexpectedly suffered a stroke. Additional investigations revealed no accepted risk factor for stroke. We discuss the possible underlying mechanisms for the delayed manifestation of hypertension and electrolyte disturbances in AME, propose an additional explanation for the stroke in this patient, and advise treatment with a mineralocorticoid receptor antagonist to reduce stroke risk in patients with AME.
authors.affiliation: Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium. noel.knops@uz.kuleuven.ac.be
authors.forename: Noël B B
authors.initials: NB
authors.lastname: Knops
authors.forename: Leo A
authors.initials: LA
authors.lastname: Monnens
authors.forename: Jacques W
authors.initials: JW
authors.lastname: Lenders
authors.forename: Elena N
authors.initials: EN
authors.lastname: Levtchenko
mesh_terms: D043209:11-beta-Hydroxysteroid Dehydrogenase Type 2 / Q000235:genetics; D004247:DNA / Q000235:genetics; D004039:Diet, Sodium-Restricted / Q000379:methods*; D019587:Dietary Supplements; D005260:Female; D005500:Follow-Up Studies; D006720:Homozygote; D006801:Humans; D007223:Infant; D043204:Mineralocorticoid Excess Syndrome, Apparent / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D009154:Mutation; D010375:Pedigree; D011188:Potassium / Q000627:therapeutic use*; D013997:Time Factors
chemical_list: D004247:DNA; D043209:11-beta-Hydroxysteroid Dehydrogenase Type 2; C468387:HSD11B2 protein, human; D011188:Potassium