Apparent Mineralocorticoid Excess

Common Name(s)

Apparent Mineralocorticoid Excess

Apparent mineralocorticoid excess (AME) is an autosomal recessive form of low-renin hypertension associated with low aldosterone, metabolic alkalosis, hypernatremia, and hypokalemia. The disorder is due to a congenital defect in 11-beta-hydroxysteroid dehydrogenase type II (HSD11B2) activity, resulting in decreased conversion of biologically active cortisol to inactive cortisone; this defect allows cortisol to act as a ligand for the mineralocorticoid receptor, resulting in sodium retention and volume expansion. There is a favorable therapeutic response to spironolactone (review by {2:Ferrari, 2010}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Apparent Mineralocorticoid Excess" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Apparent Mineralocorticoid Excess" returned 15 free, full-text research articles on human participants. First 3 results:

Apparent mineralocorticoid excess (AME) syndrome.
 

Author(s): Yusuf Parvez, Ola El Sayed

Journal: Indian Pediatr. 2013 Apr;50(4):416-8.

 

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 ...

Last Updated: 13 May 2013

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Familial glucocorticoid receptor haploinsufficiency by non-sense mediated mRNA decay, adrenal hyperplasia and apparent mineralocorticoid excess.
 

Author(s): Jérôme Bouligand, Brigitte Delemer, Annie-Claude Hecart, Geri Meduri, Say Viengchareun, Larbi Amazit, Séverine Trabado, Bruno Fève, Anne Guiochon-Mantel, Jacques Young, Marc Lombès

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Primary glucocorticoid resistance (OMIM 138040) is a rare hereditary disease that causes a generalized partial insensitivity to glucocorticoid action, due to genetic alterations of the glucocorticoid receptor (GR). Investigation of adrenal incidentalomas led to the discovery of a ...

Last Updated: 2 Nov 2010

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Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene.
 

Author(s): Fernanda Borchers Coeli, Lúcio Fábio Caldas Ferraz, Sofia H V de Lemos-Marini, Sumara Zuanazi Pinto Rigatto, Vera Maria Santoro Belangero, Maricilda Palandi de-Mello

Journal: Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1277-81.

 

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). The 11beta-HSD2 enzyme, encoded by HSD11B2 gene, metabolizes active cortisol in cortisone. Mutations ...

Last Updated: 26 Jan 2009

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Apparent Mineralocorticoid Excess" returned 1 free, full-text review articles on human participants. First 3 results:

Apparent mineralocorticoid excess syndrome: an overview.
 

Author(s): Mario Palermo, Marcus Quinkler, Paul M Stewart

Journal: Arq Bras Endocrinol Metabol. 2004 Oct;48(5):687-96.

 

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). ...

Last Updated: 11 Mar 2005

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

An Investigation Into the Effect of Liquorice Ingestion on the Salivary Cortisol to Cortisone Molar Ratio
 

Status: Not yet recruiting

Condition Summary: Apparent Mineralocorticoid Excess

 

Last Updated: 19 Oct 2016

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