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- Title
Genetic Forms of Primary Aldosteronism.
- Authors
Stowasser, Michael; Fallo, Francesco; So, Albertina; Jeske, Yvette; Kelemen, Livia; Pilon, Catia; Gordon, Richard
- Abstract
Numerous recent reports suggest that primary aldosteronism (PAL) is much more common than previously thought, accounting for 5-10% of hypertensive patients with most being normokalaemic. A recent Framingham study analysis has revealed the aldosterone/renin ratio, a marker of autonomous aldosterone production, to be an independent predictor of blood pressure progression and hypertension development. The description of two familial forms and Framingham results showing significant heritability of the aldosterone/renin ratio suggests a genetic basis for PAL. One rare, glucocorticoid-remediable, familial form (familial hyperaldosteronism type I [FH-I]), is caused by an adrenocorticotropic hormone-regulated, hybrid CYP11B1/CYP11B2 gene mutation and is associated with a wide spectrum of phenotypic expression from normotension to severe hypertension, which may cause early death from stroke, but is readily controlled by giving low-dose glucocorticoids. Identification of the underlying mutation has permitted development of genetic tests, greatly facilitating diagnosis. Familial hyperaldosteronism type II (FH-II), which is not glucocorticoid-remediable and not associated with the hybrid gene mutation, is at least five times more common than FH-I. Linkage studies have implicated a locus at chromosome 7p22 in three of five families with FH-II so far studied, and candidate genes within the linked locus are currently being closely examined. Since FH-II is clinically indistinguishable from apparently non-familial PAL, mutations causing FH-II are likely to be operative in the wider PAL population. As has occurred with FH-I, the search for its genetic basis brings with it the hope of new, more streamlined genetic methods of detection and a better understanding of its pathophysiology.
- Subjects
HYPERALDOSTERONISM; ALDOSTERONE; RENIN; BLOOD pressure; HYPERTENSION; GLUCOCORTICOIDS
- Publication
High Blood Pressure & Cardiovascular Prevention, 2007, Vol 14, Issue 2, p75
- ISSN
1120-9879
- Publication type
Article
- DOI
10.2165/00151642-200714020-00004