A Novel SCNN1B Mutation in a Neonate With Systemic Pseudohypoaldosteronism Type 1: Case Report

Clinical Case Reports 2026 Open access

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Authors: Ensiyeh Bahadoran, Fatemeh Saffari, Sahar Moghbelinejad
DOI: 10.1002/ccr3.71808
Cited by: 0
References: 16

Abstract

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.

Fields of Study & Subjects

Ion Transport and Channel Regulation Genomics and Rare Diseases Ion channel regulation and function

Publication details

Journal / source
Clinical Case Reports
Volume
14
Issue
1
Pages
e71808–e71808
Publication date
1 January 2026
Language
EN