title: Diagnosis and treatment of a child with the syndrome of apparent mineralocorticoid excess type 1.
abstract: We report the case of a 16-month-old boy who presented with chronic vomiting, failure to thrive, arterial hypertension and medullary nephrocalcinosis. Laboratory results revealed hypokalaemia, metabolic alkalosis, increased urinary potassium excretion and a hyporeninaemic hypoaldosteronism. Chromatographic determination of urinary steroid metabolites showed an abnormal elevation of tetrahydrocortisol and allo-tetrahydrocortisol compared to tetrahydrocortisone; this pattern of urinary steroid excretion is essential for the diagnosis of the syndrome of apparent mineralocorticoid excess type 1 and believed to be a result of the underlying metabolic defect, a decreased activity of the 11 beta-hydroxysteroid dehydrogenase. A second variant, called syndrome of apparent mineralocorticoid excess type 2, has similar clinical features but lacks the typical urinary steroid profile. Therapy with spironolactone resulted in growth, weight gain and blood pressure control.
authors.affiliation: Children's Hospital, University of Cologne, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Müller-Berghaus
authors.forename: J
authors.initials: J
authors.lastname: Homoki
authors.forename: D V
authors.initials: DV
authors.lastname: Michalk
authors.forename: U
authors.initials: U
authors.lastname: Querfeld
mesh_terms: D042842:11-beta-Hydroxysteroid Dehydrogenases; D005183:Failure to Thrive / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D006913:Hydroxysteroid Dehydrogenases / Q000172:deficiency; D006973:Hypertension / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D007669:Kidney Calculi / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D000451:Mineralocorticoid Receptor Antagonists / Q000627:therapeutic use; D008901:Mineralocorticoids / Q000652:urine*; D011247:Pregnancy; D013148:Spironolactone / Q000627:therapeutic use; D013760:Tetrahydrocortisol / Q000031:analogs & derivatives / Q000652:urine; D013761:Tetrahydrocortisone / Q000652:urine; D014556:Urine
chemical_list: D000451:Mineralocorticoid Receptor Antagonists; D008901:Mineralocorticoids; D013148:Spironolactone; C006461:allotetrahydrocortisol; D013761:Tetrahydrocortisone; D013760:Tetrahydrocortisol; D006913:Hydroxysteroid Dehydrogenases; D042842:11-beta-Hydroxysteroid Dehydrogenases