ArticleJournal of clinical research in pediatric endocrinology2026
A Rare Cause of Neonatal Salt Wasting Syndrome: Clinical Management of a Case Diagnosed with Pseudohypoaldosteronism due to a Novel Homozygous Variant in the
Article in Journal of clinical research in pediatric endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Case Report: Compound Heterozygous SCNN1B Mutations Causing Pseudohypoaldosteronism Type 1B2 in Neonatal Twins.Molecular genetics & genomic medicine · 2026Article
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Authors and funding
10 authors.
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Abstract
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 clinical course of a newborn diagnosed with PHA at seven days of age due to severe dehydration, inadequate feeding, vomiting, and lethargy. The infant was found to be homozygous for the variant c.1234dup (p.Glu412Glyfs*39) in exon 8 of the
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