Late-Onset Apparent Mineralocorticoid Excess Caused by Novel Compound Heterozygous Mutations in the HSD11B2 Gene

ABSTRACT—Mutations in the gene encoding 11β-hydroxysteroid dehydrogenase type 2, 11β-HSD2 (HSD11B2), explain the molecular basis for the syndrome of apparent mineralocorticoid excess (AME), characterized by severe hypertension and hypokalemic alkalosis. Cortisol is the offending mineralocorticoid in...

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Veröffentlicht in:	Hypertension (Dallas, Tex. 1979) Tex. 1979), 2003-08, Vol.42 (2), p.123-129
Hauptverfasser:	Lavery, Gareth G, Ronconi, Vanessa, Draper, Nicole, Rabbitt, Elizabeth H, Lyons, Val, Chapman, Karen E, Walker, Elizabeth A, McTernan, Claire L, Giacchetti, Gilberta, Mantero, Franco, Seckl, Jonathan R, Edwards, Christopher R.W, Connell, John M.C, Hewison, Martin, Stewart, Paul M
Format:	Artikel
Sprache:	eng
Schlagworte:	11-beta-Hydroxysteroid Dehydrogenase Type 2 Adolescent Adult Arterial hypertension. Arterial hypotension Biological and medical sciences Blood and lymphatic vessels Cardiology. Vascular system Cell Line Clinical manifestations. Epidemiology. Investigative techniques. Etiology DNA, Complementary - metabolism Female Gene Expression Genetic Predisposition to Disease Heterozygote Humans Hydroxysteroid Dehydrogenases - genetics Hydroxysteroid Dehydrogenases - metabolism Hypertension - diagnosis Hypertension - genetics Hypokalemia - diagnosis Male Medical sciences Mineralocorticoids - metabolism Mutation Pedigree Phenotype
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