AUTHOR=Alkhatib Einas H. , Bartlett Deirdre , Kanakatti Shankar Roopa , Regier Debra , Merchant Nadia 

TITLE=Case report: Early molecular confirmation and sodium polystyrene sulfonate management of systemic pseudohypoaldosteronism type I

JOURNAL=Frontiers in Endocrinology

VOLUME=Volume 14 - 2023

YEAR=2024

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2023.1297335

DOI=10.3389/fendo.2023.1297335

ISSN=1664-2392

ABSTRACT=Established Facts• Type 1 pseudohypoaldosteronism (PHA) consists of resistance to aldosterone; neonatal presentation is characterized by salt wasting, hyperkalemia, and metabolic acidosis with high risk of mortality.• Type 1 PHA can be autosomal dominant (renal type 1) or autosomal recessive (systemic type 1); renal PHA can be feasibly managed with salt supplementation, whereas systemic PHA can be more refractory to treatment.• Sodium polystyrene sulfonate can effectively treat hyperkalemia in type 1 PHA when it is safely decanted into feeds.• Early molecular confirmation in the NICU/inpatient setting is instrumental in guiding definitive treatment approaches.