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

Abstract excerpt

Pseudohypoaldosteronism (PHA) is a rare disorder that, if not promptly recognized and treated, can lead to life-threatening hyperkalemia resulting in cardiac arrest and death. Systemic PHA is caused by variants that deactivate the epithelial sodium channel subunits. Management is challenging due to high-dose oral replacement therapy, and patients with systemic PHA require lifelong treatment. Here, we present the...

Topics

• Humans
• Pseudohypoaldosteronism
• Infant, Newborn
• Homozygote
• Epithelial Sodium Channels
• Male
• Mutation
• Fatal Outcome
• Female