MINERALOCORTICOID EXCESS IN TWO BROTHERS WITH DWARFISM, HYPOKALAEMIC ALKALOSIS AND NORMAL BLOOD PRESSURE
ABSTRACT Using isotope dilution methods the secretion rates of cortisol, aldosterone, deoxycorticosterone, corticosterone and 18-hydroxycorticosterone were determined in two brothers (76/12 and 108/12 years old) with dwarfism, chronic hypokalaemia alkalosis, tendency to hyponatraemia and normal blood pressure. Both patients showed a decreased response of the blood pressure to infused angiotensin. The urinary excretion of cortisol, cortisone, corticosterone, 11-dehydrocorticosterone and their tetrahydrometabolites as well as of aldosterone was determined. In general, results were in agreement with those of the secretion rate studies. The results suggest a relatively small mineralocorticoid excess (mainly corticosterone) to high plasma-renin concentrations. The differences in both the plasma-renin concentrations and the steroid secretory rates during low and high sodium intake indicate that the renin-angiotensin-mineralocorticoid system is still under regular control, although the normal regulatory process is severely disturbed. The primary defect in these patients is probably not a relative insensitivity of the arterial walls to the pressor effect of angiotensin as suggested by Bartter et al. (1962), but rather a renal tubular defect in the re-absorption of sodium.