We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
A German family with glucocorticoid-remediable aldosteronism.
- Authors
Oliver Vonend; Christian Altenhenne; Nicolaus J. Büchner; Gabriele Dekomien; Christiane Maser-Gluth; Stefan M. Weiner; Lorenz Sellin; Stefan Hofebauer; Jörg T. Epplen; Lars C. Rump
- Abstract
Background. The prevalence of primary hyperaldosteronism (PHA) in the hypertensive population has increased in recent years. Glucocorticoid-remediable aldosteronism (GRA) is a rare monogenic form of PHA. Here we report a German family with GRA. Since the phenotype of GRA varies widely, we asked whether recommended algorithms for PHA diagnosis distinguish GRA from other forms of PHA.Methods. Plasma aldosterone (pg/ml) and renin (pg/ml) levels were determined in three hypertensive family members with GRA before and after sodium loading with 2 l of saline (0.9%), during posture and after 1 week of 2 mg dexamethasone daily. 24 h blood pressure and urinary excretion of aldosterone, cortisol precursors and metabolites were measured before and after dexamethasone. Southern blot hybridization and long-range PCR were performed to identify the chimeric gene.Results. All three affected patients had normal potassium levels but markedly increased aldosterone/renin ratios of 472, 213 and >322 (normal range <50) indicating PHA. Sodium loading failed to lower plasma aldosterone below the threshold of 50 pg/ml in all patients. During posture, aldosterone increased in one but decreased in both other GRA patients. Elevated 18-hydroxycortisol, free aldosterone and its main metabolite aldosterone-18-glucuronid and tetrahydroaldosterone returned to normal range after 1 week dexamethasone in all patients, but blood pressure was reduced only in one patient. The chimeric gene was identified in affected family members by Southern blot and PCR.Conclusions. The aldosterone/renin ratio is a valid screening and sodium loading a valid confirmation test in GRA. Determination of elevated urinary excretion of specific aldosterone metabolites and identification of the chimeric gene are mandatory since a lacking blood pressure response to dexamethasone can be misleading.
- Subjects
HYPERALDOSTERONISM; GLUCOCORTICOIDS; HYDROCORTISONE; ALDOSTERONE
- Publication
Nephrology Dialysis Transplantation, 2007, Vol 22, Issue 4, p1123
- ISSN
0931-0509
- Publication type
Article
- DOI
10.1093/ndt/gfl706