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Pseudohypoaldosteronism type 2

Disease definition

Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function.

ORPHA:757

  • Synonym(s):
    • Chloride shunt syndrome
    • Familial hyperkalemic hypertension
    • Gordon hyperkalemia-hypertension syndrome
    • Hyperkalemia-hypertension syndrome, Gordon type
    • Hypertensive hyperkalemia
    • Mineralocorticoid resistant hyperkalemia
    • PHA2
    • PHAII
    • Spitzer-Weinstein syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: I15.1
  • OMIM: 145260  614491  614492  614495  614496
  • UMLS: C1449844
  • MeSH: -
  • GARD: 4553
  • MedDRA: -

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