Pseudohypoaldosteronism (PHA) is a rare condition characterized by loss-of-function mutations in the epithelial sodium channel (ENaC), and defective sodium transport in multiple organs, including sweat duct and salivary glands. These patients also have excessive volume of the airway surface liquid, and affected children have recurrent episodes of chest congestion and chronic cough. Curiously, older patients with PHA do not typically have chronic or progressive lung disease or bacterial endobronchitis.
In the collaborative, we plan to identify and characterize individuals with pseudohypoaldosteronism, postulating that affected patients have abnormal (or equivocal) sweat chloride levels and pulmonary manifestations.