AustralieFrV1, Main, Exploration, bibRecord, 00A083

Apparent mineralocorticoid excess : Report of six new cases and extensive personal experience

Identifieur interne : 00A083 ( Main/Exploration ); précédent : 00A082; suivant : 00A084

Apparent mineralocorticoid excess : Report of six new cases and extensive personal experience

Auteurs : Gilles Morineau [France] ; Veronique Sulmont [France] ; Remi Salomon [France] ; Beatrice Fiquet-Kempf [France] ; Xavier Jeunemaitre [France] ; Jérome Nicod [Suisse] ; Paolo Ferrari [Australie]

Source :

Journal of the American Society of Nephrology [ 1046-6673 ] ; 2006.

RBID : Pascal:07-0033016

Descripteurs français

Pascal (Inist)
- Gène, Etude cas, Urologie, Mutation, 11β-Hydroxysteroid dehydrogenase, Mâle, Femelle, Enfant, Adulte, Néphrologie, Excès apparent de minéralocorticoïde.
Wicri :
- topic : Enfant, Adulte.

English descriptors

KwdEn :
- 11β-Hydroxysteroid dehydrogenase, Adult, Apparent mineralocorticoid excess, Case study, Child, Female, Gene, Male, Mutation, Nephrology, Urology.

Abstract

In mineralocorticoid target tissues such as the cortical collecting duct in the kidney, the enzyme 11β-hydroxysteroid dehydrogenase type 2 (11βHSD2) is responsible for the peripheral inactivation of cortisol to cortisone, thereby protecting the mineralocorticoid receptor from inappropriate activation by cortisol. Mutations in the HSD11B2 gene cause the syndrome of apparent mineralocorticoid excess, an autosomal recessive form of inherited hypertension in which cortisol acts as a potent mineralocorticoid. Herein are described six new families with mutations in the HSD11B2 gene causing hypokalemic hypertension, with low plasma aldosterone and low renin levels in affected individuals, indicating mineralocorticoid hypertension. Profiling of urinary steroid metabolites showed decreased cortisol inactivation, with urinary tetrahydrocortisol and tetrahy-drocortisone ratio (THF + 5aTHF)/THE ranging 2.4 to 40 and nearly absent urinary free cortisone in all but one case. Genetic analysis of the HSD11B2 gene from these patients with apparent mineralocorticoid excess revealed distinct homozygous point mutations in four families, a compound heterozygous mutation in one family, and a large 23-bp exonic insert with frameshift and disruption of the amino acid sequence in another family. Expression studies of mutants that were expressed in HEK-293 cells showed marked reduction or abolition of 11βHSD2 enzymatic activity. These cases are reviewed along with previous ones from the authors' extensive personal experience to highlight the importance of 11βHSD2 in the understanding of a new biologic principle in hormone action, demonstrating that local metabolism of the glucocorticoid hormones into inactive derivatives by the enzyme 11βHSD2 is one of the mechanisms that intervene to allow specific aldosterone regulatory effects.

Affiliations:

Links toward previous steps (curation, corpus...)

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Le document en format XML

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<term>Case study</term>
<term>Child</term>
<term>Female</term>
<term>Gene</term>
<term>Male</term>
<term>Mutation</term>
<term>Nephrology</term>
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<term>Etude cas</term>
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<term>Mâle</term>
<term>Femelle</term>
<term>Enfant</term>
<term>Adulte</term>
<term>Néphrologie</term>
<term>Excès apparent de minéralocorticoïde</term>
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<front><div type="abstract" xml:lang="en">In mineralocorticoid target tissues such as the cortical collecting duct in the kidney, the enzyme 11β-hydroxysteroid dehydrogenase type 2 (11βHSD2) is responsible for the peripheral inactivation of cortisol to cortisone, thereby protecting the mineralocorticoid receptor from inappropriate activation by cortisol. Mutations in the HSD11B2 gene cause the syndrome of apparent mineralocorticoid excess, an autosomal recessive form of inherited hypertension in which cortisol acts as a potent mineralocorticoid. Herein are described six new families with mutations in the HSD11B2 gene causing hypokalemic hypertension, with low plasma aldosterone and low renin levels in affected individuals, indicating mineralocorticoid hypertension. Profiling of urinary steroid metabolites showed decreased cortisol inactivation, with urinary tetrahydrocortisol and tetrahy-drocortisone ratio (THF + 5aTHF)/THE ranging 2.4 to 40 and nearly absent urinary free cortisone in all but one case. Genetic analysis of the HSD11B2 gene from these patients with apparent mineralocorticoid excess revealed distinct homozygous point mutations in four families, a compound heterozygous mutation in one family, and a large 23-bp exonic insert with frameshift and disruption of the amino acid sequence in another family. Expression studies of mutants that were expressed in HEK-293 cells showed marked reduction or abolition of 11βHSD2 enzymatic activity. These cases are reviewed along with previous ones from the authors' extensive personal experience to highlight the importance of 11βHSD2 in the understanding of a new biologic principle in hormone action, demonstrating that local metabolism of the glucocorticoid hormones into inactive derivatives by the enzyme 11βHSD2 is one of the mechanisms that intervene to allow specific aldosterone regulatory effects.</div>
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Apparent mineralocorticoid excess : Report of six new cases and extensive personal experience

Apparent mineralocorticoid excess : Report of six new cases and extensive personal experience

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri