pseudohypoaldosteronism type 2C

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pseudohypoaldosteronism type 2C

An autosomal dominant disorder (OMIM:614492) characterised by severe hypertension, hyperkalaemia, hyperchloremia, mild hyperchloremic metabolic acidosis in some cases, and correction of electrolyte abnormalities with thiazide diuretics.

Molecular pathology
Defects of WNK1, which encodes a protein that regulates blood pressure by controlling the transport of sodium and chloride ions, cause pseudohypoaldosteronism type 2C.