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Verfasst von:Kamrath, Clemens [VerfasserIn]   i
 Maser-Gluth, Christiane [VerfasserIn]   i
 Haag, Christine [VerfasserIn]   i
 Schulze, Egbert [VerfasserIn]   i
Titel:Diagnosis of glucocorticoid-remediable aldosteronism in hypertensive children
Verf.angabe:Clemens Kamrath, Christiane Maser-Gluth, Christine Haag, Egbert Schulze
E-Jahr:2011
Jahr:May 27, 2011
Umfang:6 S.
Fussnoten:Gesehen am 07.07.2022
Titel Quelle:Enthalten in: Hormone research in paediatrics
Ort Quelle:Basel : Karger, 2010
Jahr Quelle:2011
Band/Heft Quelle:76(2011), 2, Seite 93-98
ISSN Quelle:1663-2826
Abstract:Objective: Glucocorticoid-remediable aldosteronism (GRA) is caused by the presence of a chimeric gene originating from an unequal cross-over between the CYP11B1 and CYP11B2 genes. Aldosterone suppression by dexamethasone and high 18-hydroxycortisol (18-OHF) levels have been used to differentiate GRA from the other forms of primary aldosteronism. Methods: A dexamethasone suppression test including serum 18-OHF determination and the measurement of urinary excretion of aldosterone, its metabolites and 18-OHF were performed in 3 children of a family with primary aldosteronism. Polymerase chain reactions were performed to identify the chimeric gene. Results: The chimeric gene was identified in 2 children, their mother and grandmother. The affected children had an aldosterone-to-plasma renin activity ratio >30, elevated serum 18-OHF concentration and increased urinary excretion of aldosterone, its metabolites, and 18-OHF. Post-dexamethasone concentrations of serum aldosterone and 18-OHF concentrations were suppressed. Conclusion: Although very rare, the possible diagnosis of GRA should be considered in all children or young adults with low-renin hypertension. Since genetic testing is more specific than biochemical testing, a definitive diagnosis can only be obtained by identification of the <i>CYP11B1/CYP11B2</i> chimeric gene.
DOI:doi:10.1159/000326524
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext: https://doi.org/10.1159/000326524
 Volltext: https://www.karger.com/Article/FullText/326524
 DOI: https://doi.org/10.1159/000326524
Datenträger:Online-Ressource
Sprache:eng
K10plus-PPN:1809452651
Verknüpfungen:→ Zeitschrift

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