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Apparent Mineralocorticoid Excess Syndrome in a Brazilian Boy Caused by the Homozygous Missense Mutation p.R186C in the HSD11B2 Gene
(Sbem-soc Brasil Endocrinologia & Metabologia, 2008-11-01)
The apparent mineralocorticoid excess syndrome (AME) is a rare autosomal recessive disorder due to the deficiency of 11 beta-hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). The 11beta-HSD2 enzyme, encoded by ...
Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 geneSíndrome de excesso aparente de mineralocorticóide em um menino brasileiro causada pela mutação p.R186C em homozigose no gene HSD11B2
(Sociedade Brasileira de Endocrinologia e Metabologia, 2008)
Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess
(ISSUED FOR THE ENDOCRINE SOCIETY BY THE WILLIAMS & WILKINS CO, 2003)
Clinical, Biochemical, and Genetic Characteristics of “Nonclassic” Apparent Mineralocorticoid Excess Syndrome
(Oxford University Press, 2019)
Context
Classical apparent mineralocorticoid excess (AME) is a rare recessive disorder, caused by severe 11β-hydroxysteroid dehydrogenase type 2 enzyme (11β-HSD2) deficiency. AME manifests as low-renin pediatric hypertension, ...
Downregulation of exosomal miR-192-5p and miR-204-5p in subjects with nonclassic apparent mineralocorticoid excess.
(2019)
Abstract
Background
The “nonclassic” apparent mineralocorticoid excess (NC-AME) has been identified in approximately 7% of general population. This phenotype is characterized ...
Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excessJOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISMJ CLIN ENDOCR METAB
(ISSUED FOR THE ENDOCRINE SOCIETY BY THE WILLIAMS & WILKINS CO, 2017)
O espectro das síndromes de hipertensão esteróide na infância e adolescência
(Sociedade Brasileira de Endocrinologia e Metabologia, 2001-02-01)
Arterial hypertension is not a privilege of adults. Besides renal and vascular causes, adrenocortical and correlated diseases must be considered when investigating a hypertensive child or adolescent. The mineralocorticoid ...
11 beta-hydroxysteroid dehydrogenase type-2 and type-1 (11 beta-HSD2 and 11 beta-HSD1) and 5 beta-reductase activities in the pathogenia of essential hypertension
(HUMANA PRESS INC, 2010)
Cortisol availability is modulated by several enzymes: 11 beta-HSD2, which transforms cortisol (F) to cortisone (E) and 11 beta-HSD1 which predominantly converts inactive E to active F. Additionally, the A-ring reductases ...