Apparent Mineralocorticoid Excess Syndrome

A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS.

Also Known As:

Networked: 27 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Hyperaldosteronism (Conn Syndrome)
2.	Liddle Syndrome
3.	Pseudohypoaldosteronism
4.	Hypertension (High Blood Pressure)
5.	Hypokalemia

Experts

1.	New, Maria I: 2 articles (01/2014 - 05/2004)
2.	Warnock, D G: 2 articles (12/2001 - 06/2000)
3.	Delitala, G: 2 articles (01/2001 - 07/2000)
4.	Shackleton, C H: 2 articles (01/2001 - 07/2000)
5.	Palermo, M: 2 articles (01/2001 - 07/2000)
6.	Khattab, Ahmed M: 1 article (01/2014)
7.	Shackleton, Cedric H L: 1 article (01/2014)
8.	Bodalia, Jayesh B: 1 article (01/2014)
9.	Hughes, Beverly A: 1 article (01/2014)
10.	Nielsen, Mette Lundgren: 1 article (04/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Apparent Mineralocorticoid Excess Syndrome:

1.	Epithelial Sodium ChannelIBA 07/01/1999 - "Of note, all of these hypertensive syndromes (Liddle's syndrome, glucocorticoid-remediable aldosteronism, and the apparent mineralocorticoid excess syndrome) share an underlying dysregulation of the activity of the epithelial sodium channel in the cortical collecting tubule. " 06/01/2000 - "A major focus has been the epithelial sodium channel (ENaC), which can be activated by mutations (eg, Liddle's syndrome), changes in the response to mineralocorticoids (apparent mineralocorticoid excess syndrome), or production of mineralocorticoids (glucocorticoid-remediable aldosteronism). " 12/01/2001 - "A major focus of these studies has been the epithelial sodium channel (ENaC), which can be directly affected by mutations (eg, Liddle syndrome, autosomal recessive pseudohypoaldosteronism, type I) or by changes in the response to (autosomal recessive pseudohypoaldosteronism, type I), or production of mineralocorticoids (apparent mineralocorticoid excess syndrome, glucocorticoid-remediable aldosteronism). " 04/01/1999 - "A major focus of these studies has been the epithelial sodium channel (ENaC), which can be directly affected by mutations (eg, Liddle syndrome, autosomal recessive pseudohypoaldosteronism, type I) or by changes in the response to (autosomal recessive pseudohypoaldosteronism, type I), or production of mineralocorticoids (apparent mineralocorticoid excess syndrome, glucocorticoid-remediable aldosteronism). "
2.	MineralocorticoidsIBA 06/01/2000 - "A major focus has been the epithelial sodium channel (ENaC), which can be activated by mutations (eg, Liddle's syndrome), changes in the response to mineralocorticoids (apparent mineralocorticoid excess syndrome), or production of mineralocorticoids (glucocorticoid-remediable aldosteronism). " 12/01/2001 - "A major focus of these studies has been the epithelial sodium channel (ENaC), which can be directly affected by mutations (eg, Liddle syndrome, autosomal recessive pseudohypoaldosteronism, type I) or by changes in the response to (autosomal recessive pseudohypoaldosteronism, type I), or production of mineralocorticoids (apparent mineralocorticoid excess syndrome, glucocorticoid-remediable aldosteronism). " 04/01/1999 - "A major focus of these studies has been the epithelial sodium channel (ENaC), which can be directly affected by mutations (eg, Liddle syndrome, autosomal recessive pseudohypoaldosteronism, type I) or by changes in the response to (autosomal recessive pseudohypoaldosteronism, type I), or production of mineralocorticoids (apparent mineralocorticoid excess syndrome, glucocorticoid-remediable aldosteronism). "
3.	11-beta-Hydroxysteroid Dehydrogenase Type 2 (11 beta-Hydroxysteroid Dehydrogenase Type 2)IBA 01/20/2004 - "Reduced activity due to inhibition or mutations of 11 beta-HSD2 leads to hypertension and hypokalemia resulting in the Apparent Mineralocorticoid Excess Syndrome (AMES). " 04/01/2005 - "The concomitant measurement of UF cortisone allows the study of the activity of the enzyme 11beta-HSD2 and the diagnosis of the apparent mineralocorticoid excess syndrome. " 04/09/2012 - "Liquorice contains glycyrrhetinic acid, which inhibits the enzyme 11 beta-hydroxysteroid dehydrogenase type 2, and ultimately leads to an apparent mineralocorticoid excess syndrome. " 11/01/2008 - "The apparent mineralocorticoid excess syndrome (AME) is a rare autosomal recessive disorder due to the deficiency of 11beta-hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). "
4.	CortisoneIBA 04/01/2005 - "The concomitant measurement of UF cortisone allows the study of the activity of the enzyme 11beta-HSD2 and the diagnosis of the apparent mineralocorticoid excess syndrome. " 01/01/2012 - "The finding of abnormally high ratios of 24-h urine-free cortisol to cortisone in our three patients (case 1, 8.4; case 2, 25; and case 3, 7.5) confirmed the diagnosis of apparent mineralocorticoid excess syndrome in these children. " 01/01/2001 - "Congenital deficiency of 11beta-hydroxysteroid dehydrogenase (apparent mineralocorticoid excess syndrome): diagnostic value of urinary free cortisol and cortisone." 10/01/1991 - "Deficient or impaired 11 beta-hydroxy steroid dehydrogenase in the apparent mineralocorticoid excess syndrome or after licorice ingestion retards the conversion of cortisol to inactive cortisone in the kidney, leading to mineralocorticoid hypertension; this leads to suppression of the renin system and subsequently of aldosterone."
5.	Hydrocortisone (Cortisol)FDA LinkGeneric 07/01/2000 - "Does kidney transplantation normalise cortisol metabolism in apparent mineralocorticoid excess syndrome?" 04/01/2009 - "In this case, the observed reduction in the urinary cortisol levels, from 600.6 to 37.8 microg/day, led to a definitive diagnosis of pseudoaldosteronism instead of the apparent mineralocorticoid excess syndrome. " 05/01/2004 - "Decreased activity of this isozyme in the kidney, either congenitally in Apparent Mineralocorticoid Excess syndrome or acquired following licorice consumption, allows cortisol access to the MRs, resulting in hypokalemic hypertension. " 07/01/2009 - "Hyper-hypo tension (like Cushing's syndrome, apparent mineralocorticoid excess syndrome and Addison's disease) diagnostic laboratory requires cortisol (F) analysis. " 01/01/2012 - "The finding of abnormally high ratios of 24-h urine-free cortisol to cortisone in our three patients (case 1, 8.4; case 2, 25; and case 3, 7.5) confirmed the diagnosis of apparent mineralocorticoid excess syndrome in these children. "
6.	methylamphotericin B (AME)IBA 04/01/1993 - "Congenital deficiency of the renal isoform of the enzyme results in hypertension, hypokalemia and suppression of the renin-angiotensin-aldosterone system--the apparent mineralocorticoid excess syndrome (AME). " 01/01/2014 - "Apparent mineralocorticoid excess syndrome (AME) is an autosomal recessive genetic disorder caused by a deficiency in the enzyme 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD). " 11/01/2008 - "The apparent mineralocorticoid excess syndrome (AME) is a rare autosomal recessive disorder due to the deficiency of 11beta-hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). " 05/01/2004 - "Apparent mineralocorticoid excess syndrome (AME) is an autosomal recessive disorder that results in low renin hypertension and other characteristic clinical features. " 01/01/2003 - "At least 9 monogenic forms of HT including Liddle syndrome, type I familial hyperaldosteronism (GRA) and type II familial hyperladosteronism, Gordon syndrome, apparent mineralocorticoid excess syndrome (AME), hypertension associated with type E brachydactyly, glucocorticoid receptor mutations, type IV congenital adrenal hyperplasia (CAH) (11 beta-hydroxylase deficiency), and type V CAH (17 alpha-hydroxylase deficiency) have been described so far."
7.	ReninIBA 05/01/2004 - "Apparent mineralocorticoid excess syndrome (AME) is an autosomal recessive disorder that results in low renin hypertension and other characteristic clinical features. " 06/01/2003 - "This mechanism is related either to a mutation of the gene, which encodes 11HSD2 (apparent mineralocorticoid excess syndrome and some cases of low renin hypertension) or to an acquired reduction of the activity of the enzyme due to glycyrrhetinic acid, carbenoxolone, and grapefruit juice. " 10/01/1991 - "Deficient or impaired 11 beta-hydroxy steroid dehydrogenase in the apparent mineralocorticoid excess syndrome or after licorice ingestion retards the conversion of cortisol to inactive cortisone in the kidney, leading to mineralocorticoid hypertension; this leads to suppression of the renin system and subsequently of aldosterone." 10/01/2011 - "Mineralcorticoid hypertension includes a spectrum of disorders ranging from renin-producing pathologies (renin-secreting tumors, malignant hypertension, coarctation of aorta), aldosterone-producing pathologies (primary aldosteronism - Conns syndrome, familial hyperaldosteronism 1, 2, and 3), non-aldosterone mineralocorticoid producing pathologies (apparent mineralocorticoid excess syndrome, Liddle syndrome, deoxycorticosterone-secreting tumors, ectopic adrenocorticotropic hormones (ACTH) syndrome, congenitalvadrenal hyperplasia), and drugs with mineraocorticoid activity (locorice, carbenoxole therapy) to glucocorticoid receptor resistance syndromes. "
8.	11-beta-Hydroxysteroid Dehydrogenases (11beta Hydroxysteroid Dehydrogenase)IBA 12/01/1992 - "The apparent mineralocorticoid excess syndrome of patients ingesting large amounts of licorice or its derivatives is thought to be caused by the antagonism by these compounds of the enzyme 11 beta-hydroxysteroid dehydrogenase (11 beta-HSD). " 01/01/2001 - "Congenital deficiency of 11beta-hydroxysteroid dehydrogenase (apparent mineralocorticoid excess syndrome): diagnostic value of urinary free cortisol and cortisone."
9.	Glycyrrhizic Acid (Glycyrrhizin)IBA 01/01/2009 - "Intoxication by glycyrrhizic acid is a well-known cause of the apparent mineralocorticoid excess syndrome. " 03/01/1994 - "The increased cortisol in the kidney could be the cause of the apparent mineralocorticoid excess syndrome induced by glycyrrhizin."
10.	TetrahydrocortisoneIBA 06/01/1998 - "In addition, the normal ratio of tetrahydrocortisol plus 5alpha-tetrahydrocortisol to tetrahydrocortisone in a 24 h urinary excretion test strongly suggested a diagnosis of Liddle's disease rather than apparent mineralocorticoid excess syndrome. " 11/01/1996 - "As an example, the tetrahydrocortisol plus 5 alpha-tetrahydrocortisol/tetrahydrocortisone ratio was about 0.04 compared to normal values of about 1.0 and apparent mineralocorticoid excess syndrome values of 5.0-50.0. "

Therapies and Procedures

1.	Kidney Transplantation 07/01/2000 - "Does kidney transplantation normalise cortisol metabolism in apparent mineralocorticoid excess syndrome?"