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GTR Home > Conditions/Phenotypes > Pseudohypoaldosteronism, type 2

Pseudohypoaldosteronism, type 2

Synonyms
Pseudohypoaldosteronism, Type II
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Pseudohypoaldosteronism Type II
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.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
David H Ellison
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Available tests

1 test is in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CUL-3, NEDAUS, PHA2E, CUL3
    Summary: cullin 3

  • Also known as: PHA2D, KLHL3
    Summary: kelch like family member 3

  • Also known as: HSAN2, HSN2, KDP, PPP1R167, PRKWNK1, PSK, p65, WNK1
    Summary: WNK lysine deficient protein kinase 1

  • Also known as: PHA2B, PRKWNK4, WNK4
    Summary: WNK lysine deficient protein kinase 4

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