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 vo miting, failure to thrive, arterial hypertension and medullary nephroc alcinosis. Laboratory results revealed hypokalaemia, metabolic alkalos is, increased urinary potassium excretion and a hyporeninaemic hypoald osteronism. Chromatographic determination of urinary steroid metabolit es showed an abnormal elevation of tetrahydrocortisol and allo-tetrahy drocortisol compared to tetrahydrocortisone; this pattern of urinary s teroid excretion is essential for the diagnosis of the syndrome of app arent mineralocorticoid excess type 1 and believed to be a result of t he underlying metabolic defect, a decreased activity of the 11 beta-hy droxysteroid dehydrogenase. A second variant, called syndrome of appar ent mineralocorticoid excess type 2, has similiar clinical features bu t lacks the typical urinary steroid profile. Therapy with spironolacto ne resulted in growth, weight gain and blood pressure control.