Page not availablePseudohypoaldosteronism type I PHA1 is characterized by neonatal renal salt mineralocorticois with dehydration, hypotension, hyperkalaemia and metabolic acidosis, despite elevated aldosterone levels. Two forms of PHA1 exist. An autosomal recessive form features severe disease with manifestations persisting into adulthood. Mineralocorticoid receptor mutation form is caused by loss-of-function mutations in genes encoding subunits of the amiloride-sensitive epithelial sodium channel ENaC; refs 2,3. Autosomal dominant or sporadic PHA1 is a mineralocorticoid receptor mutation disease that remits with age.
Mineralocorticoid receptor - Wikipedia
Log in to view full text. If you're not a subscriber, you can:. Colleague's E-mail is Invalid. Your message has been successfully sent to your colleague. In recent years, the study of monogenic forms of hypertension has added greatly to our understanding of the regulatory mechanisms affecting blood pressure.
Recently, a novel such form of human hypertension caused by gain-of-function mutation in the mineralocorticoid receptor, the mediator of aldosterone-induced sodium transport in the distal nephron, has been described, with the notable finding being that pregnancy causes a severe worsening of blood pressure.
In this review, the mechanism by which the mutation causes hypertension, and the implications these findings have for improved understanding of cardiovascular physiology and mineralocorticoid receptor biology, are discussed. Correspondence to David S. You may be trying to access this site from a secured browser on the server.
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