Clinical case reports
A Novel SCNN1B Mutation in a Neonate With Systemic Pseudohypoaldosteronism Type 1: Case Report.
Ensiyeh Bahadoran, Fatemeh Saffari, Sahar Moghbelinejad
Published: 202610.1002/ccr3.71808
Abstract
Open AccessEarly recognition of PHA1B in neonates with persistent hyperkalemia and hyponatremia is important for timely intervention. Genetic testing confirms the diagnosis, guiding long-term management. This case highlights a novel SCNN1B mutation, expanding the genetic spectrum and emphasizing the need for lifelong monitoring to prevent life-threatening complications.