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Descriptor English: Mineralocorticoid Excess Syndrome, Apparent
Descriptor Spanish: Síndrome de Exceso Aparente de Mineralocorticoides
Descriptor síndrome de exceso aparente de mineralocorticoides
Entry term(s) deficiencia de cortisol-11-beta-cetorreductasa
síndrome de aparente exceso de mineralocorticoides
Scope note: Enfermedad hereditaria caracterizada por HIPERTENSIÓN de comienzo en la niñez, alcalosis hipopotasémica y disminución de la secreción de RENINA y ALDOSTERONA. Se produce a consecuencia de un defecto de la actividad de la enzima 11-BETA-HIDROXIESTEROIDE DESHIDROGENASA TIPO 2, que da lugar a una inadecuada conversión del CORTISOL en CORTISONA. La acumulación de cortisol no procesado en concentraciones que estimulan a los RECEPTORES DE MINERALOCORTICOIDES crea la apariencia de tener un exceso de MINERALOCORTICOIDES.Enfermedad hereditaria caracterizada por HIPERTENSION de aparición en la infancia, alcalosis hipopotasémica, y baja secreción de RENINA y ALDOSTERONA. Esto se debe a un defecto en la actividad de la enzima 11-BETA-HIDROXIESTEROIDE DESHIDROGENASA TIPO 2, la cual causa una inadecuada conversión de CORTISOL a CORTISONA. La reconstrucción del cortisol no procesado a niveles que estimulen los RECEPTORES DE MINERALOCORTICOIDES crea la apariencia de tener exceso de MINERALOCORTICOIDES.
Descriptor Portuguese: Síndrome de Excesso Aparente de Minerolocorticoides
Descriptor French: Syndrome d'excès apparent en minéralocorticoïdes
Entry term(s): Apparent Mineralocorticoid Excess Syndrome
Cortisol 11-beta-Ketoreductase Deficiency
Tree number(s): C16.320.565.925.500
C18.452.648.925.500
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D043204
Scope note: 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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Metabolism, Inborn Errors (1977-2003)
Public MeSH Note: 2004
History Note: 2004
DeCS ID: 38057
Unique ID: D043204
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2004/01/01
Date of Entry: 2003/07/09
Revision Date: 2006/07/05
Mineralocorticoid Excess Syndrome, Apparent - Preferred
Concept UI M0442605
Scope note 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.
Preferred term Mineralocorticoid Excess Syndrome, Apparent
Entry term(s) Apparent Mineralocorticoid Excess Syndrome
Cortisol 11-beta-Ketoreductase Deficiency



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