[Low-renin hypertension and inherited mineralocorticoid diseases].
Liddle's syndrome, apparent mineralocorticoid excess (AME) and glucocorticoid remediable aldosteronism (GRA) are inherited diseases characterized by hypertension and low plasma renin activity. Constitutive activation of distal renal epithelial sodium channel (Liddle's syndrome), defect in 11 beta-hydroxysteroid dehydrogenase activity (AME) and unequal crossing over, fusing regulatory sequences of 11 beta-hydroxylase gene to coding sequences of aldosterone synthase gene and forming a new chimeric gene (GRA), cause apparent or real mineralocorticoid excess. This diseases are often being unrecognized and classified as essential hypertension, especially in patients with normal serum potassium level. Family history of hypertension and characteristic serum and urine++ steroid profile direct us to diagnosis, and genetic analysis will confirm it.
Kastelan
D
D
Klinika za unutrasnje bolesti, Zavod za endokrinologiju KBC Zagreb.
Giljević
Z
Z
Perković
Z
Z
Plavsić
V
V
Breskovac
L
L
Aganović
I
I
Korsić
M
M
D006801:Humans; D006929:Hyperaldosteronism / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D006973:Hypertension / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D008901:Mineralocorticoids / Q000378:metabolism*; D012083:Renin / Q000097:blood*; D013577:Syndrome
D008901:Mineralocorticoids; D012083:Renin
Niskoreninska hipertenzija i nasljedne bolesti mineralokortikoida.