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.