A Rare Cause of Neonatal Salt Wasting Syndrome: Clinical Management of a Case Diagnosed with Pseudohypoaldosteronism Due to a Novel Homozygous Variant in the SCNN1B Gene
Year: 2024
Type: article
Study design: Case Report
Abstract: gene. The patient had multiple hospitalizations during follow-up and died at the age of 10 months due to pneumonia. Maintaining a high clinical suspicion for PHA is crucial for initiating treatment and preventing potential cardiac arrest and death in these patients. Further research is needed to determine the significance of such novel mutations in this disease.
Institutions: Akdeniz University, Akdeniz University Hospital
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $100
OpenAlex ID: W4405798638