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- Apparent_mineralocorticoid_excess_syndrome abstract "Apparent mineralocorticoid excess (AME) is an autosomal recessive disorder causing hypertension (high blood pressure) and hypokalemia (abnormally low levels of potassium). The condition responds to glucocorticoid treatment. It results from mutations in the HSD11B2 gene, which encodes the kidney isozyme of 11β-hydroxysteroid dehydrogenase type 2. In an unaffected individual, this isozyme inactivates circulating cortisol to the less-active metabolite cortisone. The inactivating mutation leads to elevated local concentrations of cortisol in the kidney. Cortisol at high concentrations can cross-react and activate the mineralocorticoid receptor, leading to aldosterone-like effects in the kidney. This is what causes the hypokalemia, hypertension, and hypernatremia associated with the syndrome.Other conditions such as Liddle's Syndrome can mimic the clinical features of AME, so diagnosis can be made by calculating the ratio of free urinary cortisol to free urinary cortisone. Since AME patients create less cortisone, the ratio will much be higher than non-affected patients. Alternatively, one could differentiate between the two syndromes by administering a potassium-sparing diuretic. Patients with Liddle's syndrome will only respond to a diuretic that binds the ENaC channel, whereas those with AME will respond to a diuretic that binds to ENaC or the mineralcorticoid receptor.AME is exceedingly rare, with less than 100 cases recorded worldwide.Liquorice consumption may also cause a temporary form of AME due to its ability to block 11β-hydroxysteroid dehydrogenase type 2, in turn causing increased levels of cortisol. Cessation of licorice consumption will reverse this form of AME.".
- Apparent_mineralocorticoid_excess_syndrome diseasesdb "12740".
- Apparent_mineralocorticoid_excess_syndrome meshId "D043204".
- Apparent_mineralocorticoid_excess_syndrome omim "218030".
- Apparent_mineralocorticoid_excess_syndrome thumbnail Autorecessive.svg?width=300.
- Apparent_mineralocorticoid_excess_syndrome wikiPageID "3820467".
- Apparent_mineralocorticoid_excess_syndrome wikiPageRevisionID "590647963".
- Apparent_mineralocorticoid_excess_syndrome diseasesdb "12740".
- Apparent_mineralocorticoid_excess_syndrome hasPhotoCollection Apparent_mineralocorticoid_excess_syndrome.
- Apparent_mineralocorticoid_excess_syndrome meshid "D043204".
- Apparent_mineralocorticoid_excess_syndrome name "Apparent mineralocorticoid excess syndrome".
- Apparent_mineralocorticoid_excess_syndrome omim "218030".
- Apparent_mineralocorticoid_excess_syndrome wordnet_type synset-disease-noun-1.
- Apparent_mineralocorticoid_excess_syndrome subject Category:Adrenal_gland_disorders.
- Apparent_mineralocorticoid_excess_syndrome subject Category:Autosomal_recessive_disorders.
- Apparent_mineralocorticoid_excess_syndrome subject Category:Cholesterol_and_steroid_metabolism_disorders.
- Apparent_mineralocorticoid_excess_syndrome subject Category:Genetic_disorders.
- Apparent_mineralocorticoid_excess_syndrome subject Category:Rare_diseases.
- Apparent_mineralocorticoid_excess_syndrome subject Category:Syndromes.
- Apparent_mineralocorticoid_excess_syndrome type Abstraction100002137.
- Apparent_mineralocorticoid_excess_syndrome type Attribute100024264.
- Apparent_mineralocorticoid_excess_syndrome type AutosomalRecessiveDisorders.
- Apparent_mineralocorticoid_excess_syndrome type Cognition100023271.
- Apparent_mineralocorticoid_excess_syndrome type Complex105870365.
- Apparent_mineralocorticoid_excess_syndrome type Concept105835747.
- Apparent_mineralocorticoid_excess_syndrome type Condition113920835.
- Apparent_mineralocorticoid_excess_syndrome type Content105809192.
- Apparent_mineralocorticoid_excess_syndrome type Disease114070360.
- Apparent_mineralocorticoid_excess_syndrome type Disorder114052403.
- Apparent_mineralocorticoid_excess_syndrome type Idea105833840.
- Apparent_mineralocorticoid_excess_syndrome type IllHealth114052046.
- Apparent_mineralocorticoid_excess_syndrome type Illness114061805.
- Apparent_mineralocorticoid_excess_syndrome type PathologicalState114051917.
- Apparent_mineralocorticoid_excess_syndrome type PhysicalCondition114034177.
- Apparent_mineralocorticoid_excess_syndrome type PsychologicalFeature100023100.
- Apparent_mineralocorticoid_excess_syndrome type State100024720.
- Apparent_mineralocorticoid_excess_syndrome type Syndrome105870790.
- Apparent_mineralocorticoid_excess_syndrome type Syndromes.
- Apparent_mineralocorticoid_excess_syndrome type Whole105869584.
- Apparent_mineralocorticoid_excess_syndrome type Disease.
- Apparent_mineralocorticoid_excess_syndrome type AilmentCondition.
- Apparent_mineralocorticoid_excess_syndrome type Situation.
- Apparent_mineralocorticoid_excess_syndrome comment "Apparent mineralocorticoid excess (AME) is an autosomal recessive disorder causing hypertension (high blood pressure) and hypokalemia (abnormally low levels of potassium). The condition responds to glucocorticoid treatment. It results from mutations in the HSD11B2 gene, which encodes the kidney isozyme of 11β-hydroxysteroid dehydrogenase type 2. In an unaffected individual, this isozyme inactivates circulating cortisol to the less-active metabolite cortisone.".
- Apparent_mineralocorticoid_excess_syndrome label "Apparent mineralocorticoid excess syndrome".
- Apparent_mineralocorticoid_excess_syndrome label "Pozorny nadmiar mineralokortykoidów".
- Apparent_mineralocorticoid_excess_syndrome label "Síndrome de exceso aparente de mineralocorticoide".
- Apparent_mineralocorticoid_excess_syndrome label "Синдром кажущегося избытка минералокортикоидов".
- Apparent_mineralocorticoid_excess_syndrome sameAs Síndrome_de_exceso_aparente_de_mineralocorticoide.
- Apparent_mineralocorticoid_excess_syndrome sameAs Pozorny_nadmiar_mineralokortykoidów.
- Apparent_mineralocorticoid_excess_syndrome sameAs m.0b1pd3.
- Apparent_mineralocorticoid_excess_syndrome sameAs Q2065747.
- Apparent_mineralocorticoid_excess_syndrome sameAs Q2065747.
- Apparent_mineralocorticoid_excess_syndrome sameAs Apparent_mineralocorticoid_excess_syndrome.
- Apparent_mineralocorticoid_excess_syndrome wasDerivedFrom Apparent_mineralocorticoid_excess_syndrome?oldid=590647963.
- Apparent_mineralocorticoid_excess_syndrome depiction Autorecessive.svg.
- Apparent_mineralocorticoid_excess_syndrome isPrimaryTopicOf Apparent_mineralocorticoid_excess_syndrome.
- Apparent_mineralocorticoid_excess_syndrome name "Apparent mineralocorticoid excess syndrome".