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 (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
- view full author information
Genes See tests for all associated and related genes
Also known as: CUL-3, NEDAUS, PHA2E, CUL3
Summary: cullin 3Also known as: PHA2D, KLHL3
Summary: kelch like family member 3Also known as: HSAN2, HSN2, KDP, PPP1R167, PRKWNK1, PSK, p65, WNK1
Summary: WNK lysine deficient protein kinase 1Also known as: PHA2B, PRKWNK4, WNK4
Summary: WNK lysine deficient protein kinase 4
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