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Pseudohypoaldosteronism type 2B(PHA2B)

MedGen UID:
374457
Concept ID:
C1840390
Disease or Syndrome
Synonyms: PHA2B
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene: WNK4
Cytogenetic location: 17q21.2
OMIM: 614491

Disease characteristics

Excerpted from the GeneReview: Pseudohypoaldosteronism Type II
Pseudohypoaldosteronism type II (PHAII) is characterized by hypertension and hyperkalemia despite normal glomerular filtration rate (GFR). 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. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Frederick H Wilson  |  Kristopher T Kahle   view full author information

Clinical features

Periodic hyperkalemic paralysis
MedGen UID:
429089
Concept ID:
CN006310
Finding
Episodes of muscle weakness associated with elevated levels of potassium in the blood.
Pseudohypoaldosteronism
MedGen UID:
506194
Concept ID:
CN007244
Finding
A state of renal tubular unresponsiveness or resistance to the action of aldosterone.
Hypertension
MedGen UID:
635666
Concept ID:
C0497247
Finding
A finding of increased blood pressure; not necessarily hypertensive disorder
Hyperkalemia
MedGen UID:
5691
Concept ID:
C0020461
Finding
A disorder characterized by laboratory test results that indicate an elevation in the concentration of potassium in the blood; associated with kidney failure or sometimes with the use of diuretic drugs.
Hyperchloremia
MedGen UID:
506571
Concept ID:
CN167151
Finding
An abnormally increased `chloride` (CHEBI:17996) concentration in the blood.

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