Table 1.
Molecular basis for known familial (monogenic) hypertension syndromes.
Monogenic syndrome | Mode of inheritance | Gene product | Chromosomal location |
---|---|---|---|
Apparent mineralocorticoid excess (AME) | Recessive | Non-functional 11-β-hydroxy steroid dehydrogenase (11β-HSD Type 2) enzyme | 16q |
Glucocorticoid remediable aldosteronism (GRA) | Dominant | Hybrid aldosterone synthase (CYP11B2) enzyme expressed under ACTH control | 8p |
Hypertensive forms of congenital adrenal hyperplasia | Recessive | Non-functional forms of the corresponding hydroxylases | 8q21 and 10q24 |
(11-β and 17-α hydroxylase types) | (CYP11B1 and CYP17A) | ||
Liddle's Syndrome (pseudo-aldosteronism) | Dominant | Constitutively expressed amiloride-sensitive sodium channel in distal nephron | 16p |