Pseudohypoaldosteronism type 1 as differential diagnosis of congenital adrenal hyperplasia: case report

Abstract

Objective: to expose the clinical aspects and the approach of pseudohypoaldosteronism type 1, through a case of a young infant with electrolyte disturbance initially diagnosed with congenital adrenal hyperplasia.
Case description: this report describes a case of a young infant, female, who had an episode of refractory dehydration, hyponatremia and hyperkalemia. After extensive research, it proved to be a pseudohypoaldosteronism with Type 1. Discussion: pseudohypoaldosteronism type 1 is a rare mineralocorticoid resistance syndrome characterized clinically, in the neonatal period, by vomiting, dehydration and un satisfactory ponderos-structural gain. The patients affected present with hyponatremia, hyperkalemia and metabolic acidosis associated with elevated plasma aldosterone and renin levels. The systemic form of pseudohypoaldosteronism is the most serious and the
symptoms persist for a lifetime. The renal form has a milder clinical presentation, requiring supplementation of low doses of sodium chloride, with regression of symptoms at the end of the first year of life.