997 Pseudohypoaldosteronism Type 1, Renal Form- a Case Report

Abstract

Pseudohypoaldosteronism type 1, autosmal dominant renal form is a rare genetic disorder.We report a case of pseudohypoaldosteronism / PHA/ type 1 that presented as severe salt wasting on the 20-th day of life. Initially it was appearing like congenital adrenal hyperplasia /CAH/. The baby was with severe dehydration, hyponatremia, metabolic acidosis and normokalemia. Poor response of the dehydration and electrolyte abnormalities to steroid therapy should make one suspect PHA. Diagnosis was established by demonstrating the greatly increased values of plasma renin activity and plasma aldosterone concentration and normal 17-OH progesterone and cortisol. The child was treated with sodium chloride and alkali therapy with sodium bicarbonate supplements. This patient illustrates one of the most severe clinical features of this uncommon disorder. It should be suspected in critically ill babies with severe dehydration and hyponatremia. The condition is life threatening required intensive care and long lasting adequate sodium chloride and bicarbonate with or without antipotassium supplementation.