Diagnosis and treatment of a child with the syndrome of apparent mineralocorticoid excess type 1

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 hypokulaeniin. metabolic alkalosis, increased urinary potassium excretion and ii hyporeninaeniic hypo~ildostei-onisiii. Chromatographic determination of urinary steroid metabolites showed a n abnormal elevation of tetrahydi-ocortisol and do-tetrahydrocortisol compared to tetrahydrocortisone; this pattern of urin- ary steroid excretion is essential for the diagnosis of the syndrome of apparcnt mineralocorticoid excess type I and believed to be a result of the underlying metabolic defect, a decreased activity of the II & hydroxysteroid dehydrogenase. A second variant, called syndrome of apparent mineralocorticoid excess type 2, has similiar clinical features but lacks the typical urinary steroid profile. Therapy with spironolaetone resulted in growth, weight gain and blood pressure control.