| Genetics of the mineralocorticoid system in primary hypertension. | |
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MedLine Citation:
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PMID: 11790287 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Abnormalities in steroid biosynthesis have been known for years to cause hypertension in some cases of congenital adrenal hyperplasia. In these patients hypertension usually accompanies a characteristic phenotype with abnormal sexual differentiation. Recently, the molecular basis of four forms of severe hypertension transmitted on an autosomal basis but without additional phenotypic features has been elucidated. All these conditions are characterized primarily by low plasma renin, normal or low serum potassium, and salt-sensitive hypertension, indicating an increased mineralocorticoid effect. These four disorders, the glucocorticoid remediable aldosteronism, the syndrome of apparent mineralocorticoid excess, the activating mutation of the mineralocorticoid receptor, and the Liddle syndrome are a consequence of either abnormal biosynthesis, metabolism, or action of steroid hormones, and are ultimately characterized by an overactivation of the epithelial sodium channel in distal renal tubules. Hyperactivity of this channel results in increased sodium reabsorption and volume expansion leading to an increase in blood pressure as well as potassium loss. With the advent of molecular biology in clinical practice, it has become evident that some genetic defect may present with a more discrete phenotype, with only moderate hypertension with or without hypokalemia as the sole feature. A search for genetic disorders of the mineralocorticoid axis should be an integral part of the diagnostic work-up, particularly in young adults with hypertension. |
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Authors:
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Paolo Ferrari |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Current hypertension reports Volume: 4 ISSN: 1522-6417 ISO Abbreviation: Curr. Hypertens. Rep. Publication Date: 2002 Feb |
Date Detail:
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Created Date: 2002-01-15 Completed Date: 2002-04-10 Revised Date: 2006-07-12 |
Medline Journal Info:
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Nlm Unique ID: 100888982 Medline TA: Curr Hypertens Rep Country: United States |
Other Details:
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Languages: eng Pagination: 18-24 Citation Subset: IM |
Affiliation:
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Division of Nephrology and Hypertension, Inselspital, University of Berne, Freiburgstrasse 10, 3010 Berne, Switzerland. paolo.ferrari@insel.ch |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adrenal Glands
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physiology* Aldosterone / metabolism Aldosterone Synthase / genetics* Humans Hydrocortisone / metabolism Hydroxysteroid Dehydrogenases / genetics*, metabolism Hypertension / genetics*, metabolism Mineralocorticoids / genetics*, metabolism Mutation Potassium / blood Receptors, Mineralocorticoid / genetics Renin / blood Sodium Channels / genetics Steroid 11-beta-Hydroxylase / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Mineralocorticoids; 0/Receptors, Mineralocorticoid; 0/Sodium Channels; 50-23-7/Hydrocortisone; 52-39-1/Aldosterone; 7440-09-7/Potassium; EC 1.1.-/Hydroxysteroid Dehydrogenases; EC 1.14.15.4/Aldosterone Synthase; EC 1.14.15.4/Steroid 11-beta-Hydroxylase; EC 3.4.23.15/Renin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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