Pseudohypoaldosteronism type 2

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Disease Overview

Psuedohypoaldosteronism type 2 is an inborn error of metabolism.[381] It is characterized by high blood pressure, high levels of potassium in the body, and metabolic acidosis.[382] It is caused by mutations in the WNK1 or WNK4 gene.[382] Treatment may involve dietary restriction of sodium and hydrochlorothiazide.[383]


Synonyms

  • PHA2
  • Hyperpotassemia and hypertension familial
  • Gordon hyperkalemia-hypertension syndrome
  • Chloride shunt syndrome

For more information, visit GARD.

National Organization for Rare Disorders