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

Disease Context: Research Results

Related Diseases

1.	Liddle Syndrome
2.	Glucocorticoid-Remediable Aldosteronism
3.	Pseudohypoaldosteronism
4.	Hypertension (High Blood Pressure)
5.	Hypokalemia

Experts

1.	Allende, Fidel: 2 articles (01/2018 - 01/2016)
2.	Baudrand, Rene: 2 articles (01/2018 - 01/2016)
3.	Campino, Carmen: 2 articles (01/2018 - 01/2016)
4.	Carvajal, Cristian A: 2 articles (01/2018 - 01/2016)
5.	Fardella, Carlos E: 2 articles (01/2018 - 01/2016)
6.	Lagos, Carlos F: 2 articles (01/2018 - 01/2016)
7.	Solari, Sandra: 2 articles (01/2018 - 01/2016)
8.	Tapia-Castillo, Alejandra: 2 articles (01/2018 - 01/2016)
9.	Vecchiola, Andrea: 2 articles (01/2018 - 01/2016)
10.	Armanini, Decio: 2 articles (09/2016 - 06/2003)

Drugs and Biologics

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

1.	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). " 04/01/1994 - "The forms of mineralocorticoid excess considered in the hypokalemic hypertensive patient with low aldosterone values include congenital adrenal hyperplasia (11 beta-hydroxylase and 17alpha-hydroxylase deficiencies), deoxycorticosterone-producing tumor, Cushing's syndrome, primary cortisol resistance, and 11 beta-hydroxysteroid dehydrogenase deficiency (apparent mineralocorticoid excess syndrome). " 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."
2.	Epithelial Sodium ChannelsIBA 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). "
3.	EnzymesIBA 04/01/2004 - "Inactivating mutations of the enzyme result in severe hypertension, as seen in children with apparent mineralocorticoid excess syndrome. " 10/01/1998 - "Lack or malfunction of this enzyme could result in the development of apparent mineralocorticoid excess syndrome and intrauterine growth retardation of the fetus. " 01/01/1999 - "A defect of this enzyme leads to a pseudohyperaldosteronism with hypertension and hypokalemia, the so-called apparent mineralocorticoid excess syndrome. " 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). " 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. "
4.	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). "
5.	CortisoneFDA Link 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. " 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. " 01/01/2001 - "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."
6.	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. " 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. " 03/01/1994 - "The increased cortisol in the kidney could be the cause of the apparent mineralocorticoid excess syndrome induced by glycyrrhizin."
7.	methylamphotericin B (AME)IBA 01/01/2018 - "Pathogenic variations in HSD11B2 gene triggers the apparent mineralocorticoid excess syndrome (AME). " 05/01/2004 - "Apparent mineralocorticoid excess syndrome (AME) is an autosomal recessive disorder that results in low renin hypertension and other characteristic clinical features. " 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). " 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). " 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). "
8.	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. " 06/01/2022 - "Severe hypertension, hypokalemia, low renin and aldosterone levels pointed to the diagnosis of apparent mineralocorticoid excess syndrome. " 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. "
9.	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." 09/01/2016 - "Enzymatic defects of adrenal steroidogenesis (deficiency of 17α-hydroxylase and 11β-hydroxylase), mutations of mineralocorticoid receptor (MR) and alterations of expression or saturation of 11-hydroxysteroid dehydrogenase type 2 (apparent mineralocorticoid excess syndrome, Cushing's syndrome, excessive intake of licorice, grapefruits or carbenoxolone) are the main causes of pseudohyperaldosteronism. " 04/01/1994 - "The forms of mineralocorticoid excess considered in the hypokalemic hypertensive patient with low aldosterone values include congenital adrenal hyperplasia (11 beta-hydroxylase and 17alpha-hydroxylase deficiencies), deoxycorticosterone-producing tumor, Cushing's syndrome, primary cortisol resistance, and 11 beta-hydroxysteroid dehydrogenase deficiency (apparent mineralocorticoid excess syndrome). "
10.	AldosteroneIBA 06/01/2022 - "Severe hypertension, hypokalemia, low renin and aldosterone levels pointed to the diagnosis of apparent mineralocorticoid excess syndrome. " 04/01/1994 - "The forms of mineralocorticoid excess considered in the hypokalemic hypertensive patient with low aldosterone values include congenital adrenal hyperplasia (11 beta-hydroxylase and 17alpha-hydroxylase deficiencies), deoxycorticosterone-producing tumor, Cushing's syndrome, primary cortisol resistance, and 11 beta-hydroxysteroid dehydrogenase deficiency (apparent mineralocorticoid excess syndrome). " 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. "

Therapies and Procedures

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