Severity of Hypertension in Familial Hyperaldosteronism Type I: Relationship to Gender and Degree of Biochemical Disturbance1

摘要: In familial hyperaldosteronism type I (FH-I), inheritance of a hybrid 11 beta-hydroxylase/aldosterone synthase gene causes ACTH-regulated aldosterone overproduction. an attempt to understand the marked variability in hypertension severity FH-I, we compared clinical and biochemical characteristics 9 affected individuals with mild (normotensive or onset after 15 yr, blood pressure never >160/100 mm Hg, less than equal 1 medication required control hypertension, no history stroke, age >18 yr when studied) those 17 subjects severe (onset before systolic >180 Hg diastolic >120 at least once, greater 2 medications, stroke). Severe was more frequent males (11 13 vs. 6 females; P<0.05). All 4 still normotensive 18 were females. Of 10 other affected, deceased (7 3 females) from single family, all six who died 60 (4 by stroke) males. Biochemical studies conducted 16 subjects. The groups similar terms urinary sodium excretion. Mild tended, although not significantly, have lower 18-oxo-cortisol (mean +/- SD, 27.4 9.0 35.2 12.9 nmol/mmol creatinine.day), higher plasma potassium (4.0 0.3 3.6 0.4 mmol/L), recumbent (0800 h overnight recumbency) levels (498 279 us. 744 290 pmol/L). Upright (midmorning 2-3 upright posture) (mild, 485 150; severe, 474 188 female, PRA much higher, aldosterone/PRA ratio that remaining had 2.8 1.4; 3.1 3.2 pmol/ L . min) ratios 199.5 133.4; 200.6 150.9) as During angiotensin II (AII) infusion (n = severe), performed during recumbency, group both basally (404 144 843 498 pmol/L; P < 0.05) min AII (2 ng/kg min; 261 130 520 330 0.05). Aldosterone unresponsive (rose <50%) Day curve (blood collected every for 24 h; n 7 severe) demonstrated abnormal regulation AC:TK rather groups. conclusion, this series patients degree gene-induced overproduction may contributed hypertension.