IJSRP, Volume 5, Issue 1, January 2015 Edition [ISSN 2250-3153]
Dr. S. Manohar, Dr. R. Siddeswarir, Dr. Karthik
Familial hyperaldosteronism type 1, also called glucocorticoid – remediable aldosteronism (GRA) is a rare autosomal dominant disorder associated with variable degrees of hyperaldosteronism, high levels or hybrid steroids (e.g., hydroxycortisol, 18 – oxocortisol), that are suppressed with administration of glucocorticoids. A 14 year old female presented with weakness of sudden onset in all four limbs. On examination she is found to be hypertensive and investigations revealed hypokalemia with elevated aldosterone levels and suppressed plasma renin activity leading to a diagnosis of GRA. Suppression of ACTH release with exogenous dexamethasone is a useful diagnostic and therapeutic strategy. Treatment with the mineral corticoid receptor antagoinsts spironolactone and epleronone is also efficacious.