Pseudohypoaldosteronism: report of three cases

Abstract

Primary pseudohypoaldosteronism type 1 (PHA-1) is a heterogeneous syndrome characterised by salt-wasting due to unresponsiveness of target organ to mineralocorticoids. It is inherited in an autosomal recessive or autosomal dominant pattern, and often is a result of the mutation de novo. It can be sub-classified into two distinguishable clinical entities: renal PHA type 1 (renal PHA-1) and multiple PHA type 1 (multiple PHA-1). Secondary (transient) PHA type 1 is usually associated with urinary tract infections complicating structural urinary tract anomalies. PHA type 2 (PHA-2, Gordon syndrome) is an entity inherited in an autosomal dominant pattern.

Three cases of PHA, two with renal PHA-1 and one with secondary PHA type 1, are reported.

In all patients with salt-wasting and dehydration differentiation between congenital adrenal hyperplasia and PHA should be performed. Also, in the case with hyperkalaemia, hyponatremia and metabolic acidosis, urinary tract infection and obstructive uropathy should be excluded.

Keywords: child, pseudohypoaldosteronism, renal type, transient