[Pseudohypoaldosteronism in infants with salt wasting syndrome. Two case reports]

The paper discusses two cases of male infants, who developed a markedly elevated salt wasting syndrome in early infancy, resistant to treatment with mineralocorticoids. Steroid urinary profiles excluded congenital adrenal hyperplasia. However, both patients presented with extremely high excretion of aldosterone metabolite THAldo without effects of aldosterone action, what resulted in pseudohypoaldosteronism (PHA) diagnosis. The patients were treated with sodium supplementation, which normalized their clinical state and serum electrolytes. In the first patient the sporadic form of renal PHA1 is suspected. In the second patient congenital urinary tract anomalies and infection resulted in transient PHA1. Pseudohypoaldosteronism should be considered in the differential diagnosis of a salt wasting syndrome in infants, especially when it is accompanied by infections or congenital defects of the urinary tract.