Abstract
The knowledge of the genetic bases of hypertension has improved over the last decade; this area of research has high priority due to the high incidence of hypertension and its impact on public health. Monogenetic mineralocorticoid hypertension syndromes are associated with suppressed plasma renin activity due to excessive activation of the mineralocorticoid pathway. We review the pathophysiology, phenotype, and method of diagnosis for familial hyperaldosteronism type I and type II, hypertensive forms of congenital adrenal hyperplasia, 11beta-hydroxysteroid dehydrogenase type 2 deficiency, Liddle's syndrome, an activating mutation of the MR, and glucocorticoid resistance. We also review some genes that could contribute to essential hypertension.
Copyright 2009 S. Karger AG, Basel.
MeSH terms
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11-beta-Hydroxysteroid Dehydrogenase Type 2 / genetics
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11-beta-Hydroxysteroid Dehydrogenases / deficiency
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11-beta-Hydroxysteroid Dehydrogenases / genetics
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Adrenal Hyperplasia, Congenital / genetics
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Angiotensinogen / genetics
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Drug Resistance / physiology
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Epithelial Sodium Channels / genetics
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Glucocorticoids / physiology
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Humans
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Hyperaldosteronism / genetics
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Hypertension / genetics*
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Mineralocorticoid Excess Syndrome, Apparent / physiopathology
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Peptidyl-Dipeptidase A / genetics
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Phenotype
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Receptor, Angiotensin, Type 1 / genetics
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Receptors, Mineralocorticoid / genetics
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Syndrome
Substances
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Epithelial Sodium Channels
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Glucocorticoids
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Receptor, Angiotensin, Type 1
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Receptors, Mineralocorticoid
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SCNN1B protein, human
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Angiotensinogen
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11-beta-Hydroxysteroid Dehydrogenase Type 2
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11-beta-Hydroxysteroid Dehydrogenases
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Peptidyl-Dipeptidase A