Pathogenesis of pseudohypoaldosteronism type 2 by WNK1 mutations

@article{Bergaya2012PathogenesisOP,
  title={Pathogenesis of pseudohypoaldosteronism type 2 by WNK1 mutations},
  author={Sonia Bergaya and Emmanuelle Vidal-Petiot and Xavier Jeunema{\^i}tre and Juliette Hadchouel},
  journal={Current Opinion in Nephrology and Hypertension},
  year={2012},
  volume={21},
  pages={39–45}
}
Purpose of reviewPseudohypoaldosteronism 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 findingsThe WNK1 gene gives rise to a ubiquitous kinase (L-WNK1) and to a shorter kinase-defective isoform, KS… 

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