11β-Hydroxysteroid Dehydrogenase and the Syndrome of Apparent Mineralocorticoid Excess*
نویسندگان
چکیده
منابع مشابه
Syndrome of Apparent Mineralocorticoid Excess
The first adult case of 1 1,-hydroxysteroid dehydrogenase ( 1#6-OHSD) deficiency is described. The impaired conversion of cortisol to cortisone (indicated by urinary cortisol and cortisone metabolites and failure to metabolize 1 a-VIHlcortisol to 13H1H20), was associated with hypertension, hypokalemia, and suppression of the renin-angiotensin-aldosterone system. When established on a fixed Na+/...
متن کاملApparent mineralocorticoid excess (AME) syndrome.
Apparent mineralocorticoid excess (AME) syndrome is a rare autosomal recessive disorder due to the deficiency of 11b hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). Mutations in this gene affect the enzymatic activity resulting to an excess of cortisol, which causes its inappropriate access to mineralocorticoid receptor leading to inherited hypertension.This is a potentially fatal but...
متن کاملThe syndrome of apparent mineralocorticoid excess.
The elucidation of the basis of a rare inherited dis-development of hypertension, the biochemical abnormalities and the disturbances in cortisol meta-order is satisfying in itself, but particularly so if it leads to a greater understanding of normal physiology bolism.7 How then could cortisol, conventionally regarded as a glucocorticoid, act as a potent mineral-and other disease processes. Such...
متن کاملImpaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess.
Apparent mineralocorticoid excess (AME) is a severe form of hypertension that is caused by impaired activity of 11beta-hydroxysteroid dehydrogenase type 2 (11beta-HSD2), which converts biologically active cortisol into inactive cortisone. Mutations in HSD11B2 result in cortisol-induced activation of mineralocorticoid receptors and cause hypertension with hypokalemia, metabolic alkalosis, and su...
متن کاملAPPARENT MINERALOCORTICOID EXCESS IN THREE SIBLINGS
Three siblings (1 boy, 2 girls) with hypertension and hypokalemia are presented, two with low plasma aldosterone and suppressed renin activity and the eldest with a high renin and aldosterone level due to secondary changes in her kidneys. Urinary tetrahydrocortisol (THF) was increased relative to tetrahydrocortisone (THE). Cortisol ring A reduction constant was also lower than normal. Thes...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Endocrine Reviews
سال: 1997
ISSN: 0163-769X,1945-7189
DOI: 10.1210/edrv.18.1.0288