Pseudohypoaldosteronism type 2E
- Synonyms
- Pseudohypoaldosteronism Type IIE
- Modes of inheritance
- 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
Available tests
22 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (22 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Hyperchloremia
Hyperchloremia
- MedGen UID: 39325
- Concept ID: C0085679
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hyperchloremic metabolic acidosis
Hyperchloremic metabolic acidosis
- MedGen UID: 369924
- Concept ID: C1969073
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hyperkalemia
Hyperkalemia
- MedGen UID: 5691
- Concept ID: C0020461
- Finding: Finding
Abnormality of metabolism/homeostasis
- Metabolic acidosis
Metabolic acidosis
- MedGen UID: 65117
- Concept ID: C0220981
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Hyperchloremia
- Abnormality of the cardiovascular system
- Hypertensive disorder
Hypertensive disorder
- MedGen UID: 6969
- Concept ID: C0020538
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Hypertensive disorder
- Abnormality of the endocrine system
- Pseudohypoaldosteronism
Pseudohypoaldosteronism
- MedGen UID: 18721
- Concept ID: C0033805
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Pseudohypoaldosteronism
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