Table 1.

The three types of pseudohypoaldosteronisma

TypeInheritanceClinical and Biochemical CharacteristicsMolecular PathologyOMIM
a AR, autosomal recessive; AD, autosomal dominant; PAC, plasma aldosterone concentration; PRA, plasma renin activity.
b Gordon syndrome or familial hyperkaliemic hypertension.
c Transient PHA.
IARRenal: salt wasting, hyponatremia, hyperkalemia, metabolic acidosis elevated PAC and PRA, treatment by salt supplementation for lifeMutations on the three genes coding for the epithelial sodium channel264350
Lung: chest congestion, cough and tachypnea
Na+ and Cl elevated in sweat, saliva, and stool
ADRenal: salt wasting, hyponatremia, hyperkalemia, metabolic acidosis, elevated PAC and PRA, treatment by salt supplementationMutations on the gene coding for the mineralocorticoid receptor177735
Spontaneous remission over time.
IIbADHyperkalemia, hypertension, hyperchloremic acidosis, normal PAC, low PRA, treatment by thiazide diureticsAt least three subtypes:
subtype a: associated with locus on chromosome 1q31–q42 (gene unknown)145260
subtype b: mutations on the gene coding for WNK4601844
subtype c: mutations on the gene coding for WNK1605232
IIIcNoHyperkalemia, acidosis, elevated PAC and PRA, low glomerular filtration rate.Secondary to:
excessive salt loss: intestine, sweat
nephropathies: obstructive uropathy, sickle cell and lead nephropathy, amyloidosis, urinary tract infections.