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Pseudohypoaldosteronism type 2E

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Description

Pseudohypoaldosteronism type II (PHAII) is characterized by hyperkalemia despite normal glomerular filtration rate (GFR) and frequently by hypertension. Other associated findings in both children and adults include hyperchloremia, metabolic acidosis, and suppressed plasma renin levels. Aldosterone levels are variable, but are relatively low given the degree of hyperkalemia (elevated serum potassium is a potent stimulus for aldosterone secretion). Hypercalciuria is well described.

GeneReviews

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

117

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Genes

External Links

  • OMIM

    614496

  • Orphanet

    300530

  • HPO
  • Medgen

    C3469606

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