Salt sensitivity of blood pressure in patients with 17 alpha-hydroxylase deficiency

To clarify the salt sensitivity of blood pressure in 17 alpha-hydroxylase deficiency (17 alpha-HD), a mineralocorticoid-induced hypertension, we examined the responses of blood pressure to salt loading (250 mEq/day for 6 days) after salt restriction (25 mEq/day for 3 days) in two 17 alpha-HD patients who had markedly high plasma deoxycorticosterone (DOC) (5.27 and 6.59 ng/mL; normal, 0.08 to 0.28) and corticosterone (B) (93 and 357 ng/mL; normal, 0.35 to 8.42). In case 1, moreover, the same study was repeated when plasma DOC and B restored to almost normal with the dexamethasone treatment (1 mg/day) (0.34 and 0.45 ng/mL). Salt loading elevated mean blood pressure markedly in both patients (14% and 20%), associated with cumulative sodium retention and body weight gain. Hemodynamic study showed marked increases in cardiac output (25% and 69%), but only slight decreases in systemic vascular resistance with salt loading. On the other hand, the treatment with dexamethasone could attenuate the salt-induced increase in blood pressure (2%), accompanied by lesser sodium retention, body weight gain, and elevation of cardiac output (7%) in case 1. The slope of the renal function curve for sodium excretion was decreased in these patients, and was restored toward normal by dexamethasone in case 1. We conclude that the patients with 17 alpha-HD showed salt-sensitive hypertension due to excessive DOC and B, through the impaired renal function for sodium excretion, disproportionate increase in cardiac output, and inadequate vasodilation.