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Pseudohypoaldosteronism type 2C

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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

633

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Genes

External Links

  • OMIM

    614492

  • Orphanet

    88940

  • HPO
  • Medgen

    C1840391

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