GTR Home > Conditions/Phenotypes > Pseudohypoaldosteronism type 1 autosomal recessive

Summary

Autosomal recessive pseudohypoaldosteronism type I is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Laboratory evaluation shows hyponatremia, hyperkalemia, and increased plasma renin activity with high serum aldosterone concentrations. Respiratory tract infections are common in affected children and may be mistaken for cystic fibrosis (CF; 219700). Aggressive salt replacement and control of hyperkalemia results in survival, and the disorder appears to become less severe with age (review by Scheinman et al., 1999). A milder, autosomal dominant form of type I pseudohypoaldosteronism (PHA1A; 177735) is caused by mutations in the mineralocorticoid receptor gene (MCR, NR3C2; 600983). Gitelman syndrome (263800), another example of primary renal tubular salt wasting, is due to mutation in the thiazide-sensitive sodium-chloride cotransporter (SLC12A3; 600968). [from OMIM]

Available tests

15 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes for additional relevant tests.

Associated genes

  • Also known as: BESC2, ENaCa, ENaCalpha, SCNEA, SCNN1, SCNN1A
    Summary: sodium channel, non-voltage-gated 1 alpha subunit

  • Also known as: hCG_23853, BESC1, ENaCb, ENaCbeta, SCNEB, SCNN1B
    Summary: sodium channel, non-voltage-gated 1, beta subunit

  • Also known as: BESC3, ENaCg, ENaCgamma, PHA1, SCNEG, SCNN1G
    Summary: sodium channel, non-voltage-gated 1, gamma subunit

Clinical features

Help
  • Hyperkalemia
  • Hyponatremia
  • Hypotension
  • Hyperactive renin-angiotensin system
  • Hyperaldosteronism
  • Recurrent respiratory infections
  • Diarrhea
  • Failure to thrive
  • Feeding difficulties in infancy
  • Vomiting
  • Dehydration
  • Renal salt wasting
  • Metabolic acidosis
  • Pseudohypoaldosteronism
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