| Severity of hypertension in familial hyperaldosteronism type I: relationship to gender and degree of biochemical disturbance. | |
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MedLine Citation:
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PMID: 10852446 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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In familial hyperaldosteronism type I (FH-I), inheritance of a hybrid 11beta-hydroxylase/aldosterone synthase gene causes ACTH-regulated aldosterone overproduction. In an attempt to understand the marked variability in hypertension severity in FH-I, we compared clinical and biochemical characteristics of 9 affected individuals with mild hypertension (normotensive or onset of hypertension after 15 yr, blood pressure never >160/100 mm Hg, < or = 1 medication required to control hypertension, no history of stroke, age >18 yr when studied) with those of 17 subjects with severe hypertension (onset before 15 yr, or systolic blood pressure >180 mm Hg or diastolic blood pressure >120 mm Hg at least once, or > or = 2 medications, or history of stroke). Severe hypertension was more frequent in males (11 of 13 males vs. 6 of 13 females; P < 0.05). All 4 subjects still normotensive after age 18 yr were females. Of 10 other affected, deceased individuals (7 males and 3 females) from a single family, all six who died before 60 yr of age (4 by stroke) were males. Biochemical studies were conducted in 6 mild and 16 severe subjects. The 2 groups were similar in terms of urinary sodium excretion. Mild subjects tended, although not significantly, to have lower urinary 18-oxo-cortisol (mean +/- SD, 27.4 +/- 9.0 vs. 35.2 +/- 12.9 nmol/mmol creatinine x day), higher plasma potassium (4.0 +/- 0.3 vs. 3.6 +/- 0.4 mmol/L), and lower recumbent (0800 h after overnight recumbency) plasma aldosterone levels (498 +/- 279 vs. 744 +/- 290 pmol/L). Upright (midmorning after 2-3 h of upright posture) plasma aldosterone levels were similar (mild, 485 +/- 150; severe, 474 +/- 188 pmol/L). In 1 normotensive female, upright PRA was much higher, and the upright aldosterone/PRA ratio was much lower than that in the other subjects. The remaining mild subjects had similar upright PRA levels (mild, 2.8 +/- 1.4; severe, 3.7 +/- 3.2 pmol/ L x min) and aldosterone/PRA ratios (mild, 199.5 +/- 133.4; severe, 200.6 +/- 150.9) as severe subjects. During angiotensin II (AII) infusion studies (n = 6 mild and 10 severe), performed during recumbency, aldosterone levels were lower in the mild group both basally (404 +/- 144 vs. 843 +/- 498 pmol/L; P < 0.05) and after 60 min AII (2 ng/kg x min; 261 +/- 130 vs. 520 +/- 330 pmol/L; P < 0.05). Aldosterone was unresponsive (rose by <50%) to AII in all subjects. Day curve studies (blood collected every 2 h for 24 h; n = 2 mild and 7 severe) demonstrated abnormal regulation of aldosterone by ACTH rather than by AII in both groups. In conclusion, in this series of patients with FH-I, males had more severe hypertension, and the degree of hybrid gene-induced aldosterone overproduction may have contributed to the severity of hypertension. |
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Authors:
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M Stowasser; A W Bachmann; P R Huggard; T R Rossetti; R D Gordon |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. |
Journal Detail:
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Title: The Journal of clinical endocrinology and metabolism Volume: 85 ISSN: 0021-972X ISO Abbreviation: J. Clin. Endocrinol. Metab. Publication Date: 2000 Jun |
Date Detail:
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Created Date: 2000-06-23 Completed Date: 2000-06-23 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0375362 Medline TA: J Clin Endocrinol Metab Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 2160-6 Citation Subset: AIM; IM |
Affiliation:
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University Department of Medicine, Greenslopes Hospital, Brisbane, Australia. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adrenocorticotropic Hormone / physiology Adult Aged Aldosterone / biosynthesis, blood Aldosterone Synthase / genetics, metabolism Circadian Rhythm Female Humans Hydrocortisone / analogs & derivatives, urine Hyperaldosteronism / genetics*, metabolism, physiopathology* Hypertension / complications, metabolism, physiopathology* Male Middle Aged Posture Potassium / blood Renin / blood Sex Characteristics* Sodium / urine |
| Chemical | |
Reg. No./Substance:
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2410-60-8/18-oxocortisol; 50-23-7/Hydrocortisone; 52-39-1/Aldosterone; 7440-09-7/Potassium; 7440-23-5/Sodium; 9002-60-2/Adrenocorticotropic Hormone; EC 1.14.15.4/Aldosterone Synthase; EC 3.4.23.15/Renin |
| Comments/Corrections | |
Comment In:
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J Clin Endocrinol Metab. 2000 Jun;85(6):2158-9
[PMID:
10852445
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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