Bitter experience with liquorice sweetening agent resulting in apparent mineralocorticoid excess with periodic paralysis

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APPARENT MINERALOCORTICOID EXCESS IN THREE SIBLINGS

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apparent 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. these fin...

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Apparent 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...

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Apparent mineralocorticoid excess syndrome: an overview.

Apparent mineralocorticoid excess (AME) syndrome results from defective 11beta-hydroxysteroid dehydrogenase type 2 (11beta-HSD2). This enzyme is co-expressed with the mineralocorticoid receptor (MR) in the kidney and converts cortisol (F) to its inactive metabolite cortisone (E). Its deficiency allows the unmetabolized cortisol to bind to the MR inducing sodium retention, hypokalemia, suppressi...

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ژورنال

عنوان ژورنال: BMJ Case Reports

سال: 2018

ISSN: 1757-790X

DOI: 10.1136/bcr-2018-225686