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Pseudohypoaldosteronism type 2C(PHA2C)

MedGen UID:
327089
Concept ID:
C1840391
Disease or Syndrome
Synonyms: PHA2C; Pseudohypoaldosteronism, Type IIC
 
Gene (location): WNK1 (12p13.33)
 
Monarch Initiative: MONDO:0013778
OMIM®: 614492
Orphanet: ORPHA88940

Disease characteristics

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. [from GeneReviews]
Authors:
David H Ellison   view full author information

Clinical features

From HPO
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Hyperkalemia
MedGen UID:
5691
Concept ID:
C0020461
Finding
An abnormally increased potassium concentration in the blood.
Hyperchloremia
MedGen UID:
39325
Concept ID:
C0085679
Disease or Syndrome
An abnormally increased chloride concentration in the blood.
Metabolic acidosis
MedGen UID:
65117
Concept ID:
C0220981
Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
Hyperchloremic metabolic acidosis
MedGen UID:
369924
Concept ID:
C1969073
Disease or Syndrome
A form of metabolic acidosis with increased serum chloride levels.
Decreased serum bicarbonate concentration
MedGen UID:
1670967
Concept ID:
C4732833
Finding
An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation.
Pseudohypoaldosteronism
MedGen UID:
18721
Concept ID:
C0033805
Disease or Syndrome
A state of renal tubular unresponsiveness or resistance to the action of aldosterone.
Decreased circulating renin concentration
MedGen UID:
337182
Concept ID:
C1845206
Finding
An decreased level of renin in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Pseudohypoaldosteronism type 2C in Orphanet.

Recent clinical studies

Diagnosis

Lewis T, Roberts G, Zouwail S
Ann Clin Biochem 2021 Nov;58(6):661-665. Epub 2021 Jul 4 doi: 10.1177/00045632211028614. PMID: 34159796

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