Pseudohypoaldosteronism Type II (PHA2) encompasses a group of rare genetic mutations with affected patients presenting with hypertension and hyperkalemia.
Synonym: Gordon hyperkalemia-hypertension syndrome
Inheritance: autosomal dominant
Subtype
Genetic Locus
Gene Affected
PHA 2A
1q31-q42
WNK4
PHA 2B
17p11-q21
AE1
PHA 2C
12p13
WNK1
WNK refers to a group serine-threonine kinases. WNK1 and WNK4 affect sodium reabsorption and potassium secretion in the distal nephron. AE1 encodes an ion exchanger.
Clinical features:
(1) hypertension
(3) resolution of clinical findings after therapy with thiazide diuretics
Laboratory features:
(1) hyperkalemia
(2) mild hyperchloremia
(3) low plasma renin activity
(4) low (true hypoaldosteronism) to normal plasma aldosterone level with evidence of aldosterone resistance
(5) metabolic acidosis
(6) normal glomerular filtration rate and normal serum creatinine
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