Familial pseudohypoaldosteronism

The clinical course of two siblings with a severe form of pseudohypoaldosteronism was followed over a period of seven and five years respectively. Both children persistently had a high sodium-potassium excretion ratio in the urine, sweat, saliva, and stools as well as high serum concentrations of aldosterone and renin and an increased urinary excretion of tetrahydroaldosterone. Despite sustained treatment with sodium chloride (10-40 mmol/kg/d) and cation exchange resin (sodium polystyrole sulfonate 0.5-2 g/kg/d) they repeatedly developed episodes of salt wasting and hyperkalemia which occurred mainly during uncomplicated respiratory tract infections. Aldosterone receptor characteristics were studied in the cytosol of the rectal mucosa at ages 2.5 years and 6 months respectively. Compared to age matched controls there was a decreased affinity for aldosterone at the low affinity binding site. Among the members of the family, the father and one of his sisters had high concentrations of sodium in the sweat and an increased urinary excretion of tetrahydroaldosterone.