[Mineralocorticoid-like hypertension. "Apparent mineralocorticoid excess". A hereditary type of hypertension?].
The syndrome of apparent mineralocorticoid excess is a form of hypertension inherited in an autosomal recessive manner. It results from mutations in the gene encoding the kidney isoenzyme of 11 beta-hydroxysteroid dehydrogenase. A number of different mutations have been described. Affected patients present with hypertension, hypokalemia and low levels of plasma renin and aldosterone. The severity of cases vary according to the degree of reduced activity of the enzyme. Treatment with potassium-sparing diuretics is effective. Four young adults with moderate hypertension are presented. They all had hypokalemia, low renin and low aldosterone. The THF + allo-THF/THE ratio was normal or slightly elevated. Treatment with amiloride was effective. They are suspected to be mild cases of the syndrome of apparent mineralocorticoid excess.
Christensen
T H
TH
Medicinsk afdeling C/F, Amtssygehuset i Glostrup.
Kaae
H H
HH
Ibsen
H
H
D000293:Adolescent; D000328:Adult; D000450:Aldosterone / Q000097:blood; D000584:Amiloride / Q000627:therapeutic use; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D004232:Diuretics / Q000627:therapeutic use; D005808:Genes, Recessive; D006801:Humans; D006854:Hydrocortisone / Q000378:metabolism; D006913:Hydroxysteroid Dehydrogenases / Q000378:metabolism; D006973:Hypertension / Q000188:drug therapy / Q000209:etiology / Q000235:genetics / Q000378:metabolism; D007684:Kidney Tubules / Q000378:metabolism; D008875:Middle Aged; D008901:Mineralocorticoids / Q000378:metabolism; D012083:Renin / Q000097:blood; D012189:Retrospective Studies; D013577:Syndrome
D004232:Diuretics; D008901:Mineralocorticoids; D000450:Aldosterone; D000584:Amiloride; D006913:Hydroxysteroid Dehydrogenases; D012083:Renin; D006854:Hydrocortisone
Mineralokortikoidlignende hypertension. "Apparent mineralcorticoid excess". En arvelig hypertensionsform?