Article
Pathogenesis of pseudohypoaldosteronism type 2 by WNK1 mutations.
Current opinion in nephrology and hypertension - 1 Jan 2012
Bergaya Sonia, Vidal-Petiot Emmanuelle, Jeunemaitre Xavier, Hadchouel Juliette
Abstract excerpt
PURPOSE OF REVIEW: Pseudohypoaldosteronism type 2 (PHA2) is a rare autosomal dominant form of human arterial hypertension, associated with hyperkalemia and hyperchloremic metabolic acidosis. WNK1 and WNK4 are two of the genes mutated in PHA2 patients. This review focuses on the mechanisms by which deletions of the first intron of WNK1 found in PHA2 patients trigger the disease. RECENT FINDINGS: The WNK1 gene...
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