A Novel <scp>SCNN1B</scp> Mutation in a Neonate With Systemic Pseudohypoaldosteronism Type 1: Case Report
Early 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.
Authors
- Fatemeh Saffari (ORCID: https://orcid.org/0000-0002-8366-5205)
- Ensiyeh Bahadoran (ORCID: https://orcid.org/0000-0001-8299-1466)
- Sahar Moghbelinejad
Institutions
- Qazvin University of Medical Sciences (IR)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2026-01-01
- DOI
- https://doi.org/10.1002/ccr3.71808
- Primary Topic
- Ion Transport and Channel Regulation
- Type
- article
- Field-Weighted Citation Impact
- 0.00