title: Aldosterone-related genetic effects in hypertension.
abstract: Our basic understanding of Na(+) transport mechanisms provides unique insights into epithelial transport processes. Unusual clinical syndromes can arise from mutations of these ion transporters. These genetic disorders affect Na(+) balance, resulting in both N(a+) retaining and Na(+) wasting conditions. A major focus has been the epithelial sodium channel (ENaC), which can be activated by mutations (eg, Liddle's syndrome), changes in the response to mineralocorticoids (apparent mineralocorticoid excess syndrome), or production of mineralocorticoids (glucocorticoid-remediable aldosteronism). As a result, we now have clearly defined Mendelian syndromes in which ENaC activity is "dysregulated." This dysregulation leads to systemic hypertension associated with suppressed plasma renin activity, which can be attributed to a primary renal mechanism. Applying these insights to the far more common disorder of low-renin hypertension may shed new light on the underlying pathophysiology of this common form of human hypertension.
authors.affiliation: Division of Nephrology, University of Alabama at Birmingham, 1530 3rd Avenue South, THT 647, Birmingham, AL 35294-0007, USA. dwarnock@nrtc.dom.uab.edu
authors.forename: D G
authors.initials: DG
authors.lastname: Warnock
mesh_terms: D000450:Aldosterone / Q000235:genetics*; D019405:Cytochrome P-450 CYP11B2 / Q000235:genetics; D004848:Epithelium / Q000378:metabolism; D006801:Humans; D006929:Hyperaldosteronism / Q000235:genetics; D006973:Hypertension / Q000097:blood / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D017136:Ion Transport / Q000235:genetics; D007668:Kidney / Q000378:metabolism; D008901:Mineralocorticoids / Q000235:genetics; D009154:Mutation / Q000235:genetics; D012083:Renin / Q000097:blood / Q000502:physiology; D012964:Sodium / Q000378:metabolism; D015222:Sodium Channels / Q000235:genetics; D013577:Syndrome
chemical_list: D008901:Mineralocorticoids; D015222:Sodium Channels; D000450:Aldosterone; D012964:Sodium; D019405:Cytochrome P-450 CYP11B2; D012083:Renin