Pseudohypoaldosteronism Type 1: The Presentation and Management of a Neonate With a Novel Mutation of the SCNN1B Gene Found in Two Hispanic Siblings

Pseudohypoaldosteronism type 1 (PHA1) may manifest in the neonatal period as a life-threatening salt-wasting syndrome providing challenges in recognition and treatment. This case describes a newborn who developed severe dehydration and electrolyte imbalances and subsequently was found to have a novel SCNN1B gene variant resulting in autosomal recessive systemic PHA1.