Article
Mechanisms of type I and type II pseudohypoaldosteronism.
Journal of the American Society of Nephrology : JASN - 1 Nov 2010
Furgeson Seth B, Linas Stuart
Abstract excerpt
Pseudohypoaldosteronism (PHA) types I and II are curious genetic disorders that share hyperkalemia as a predominant finding. Together they have become windows to understanding new molecular physiology in the kidney. Autosomal recessive PHAI results from mutations in the epithelial sodium channel (ENaC), whereas autosomal dominant PHAI is characterized by mutations in the mineralocorticoid receptor. PHAII is the...
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