Increased Na reabsorption via the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronism.

Background: The autosomal recessive form of pseudohypoaldosteronism type 1 (AR-PHA1) is caused by loss-of-function mutations in the epithelial sodium channel subunit genes and is characterized by a multisystemic and lifelong severe salt-wasting tendency. However, we observed a male AR-PHA1 patient who exhibited less frequent salt wasting with advancing age, despite the cessation of daily salt supplementation.

Objective: To elucidate the mechanism for the above phenomenon.