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Pseudohypoaldosteronism Type 1: The Presentation and Management of a Neonate With a Novel Mutation of the SCNN1B Gene Found in Two Hispanic Siblings
Journal article   Open access  Peer reviewed

Pseudohypoaldosteronism Type 1: The Presentation and Management of a Neonate With a Novel Mutation of the SCNN1B Gene Found in Two Hispanic Siblings

Charles P Pugh and Hyder Mirghani
Curēus (Palo Alto, CA), Vol.14(4), p.e23918
07/04/2022
DOI: https://doi.org/10.7759/cureus.23918
PMID: 35530903

Abstract

Genetics neonatal salt wasting Nephrology Pediatrics pha gene variant pha type 1 pseudohypoaldosteronism type 1 scnn1b gene
Pseudohypoaldosteronism type 1 (PHA1) may manifest in the neonatal period as a life-threatening salt-wasting syndrome providing challenges in recognition and treatment. This case describes a newborn who developed severe dehydration and electrolyte imbalances and subsequently was found to have a novel SCNN1B gene variant resulting in autosomal recessive systemic PHA1.
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https://doi.org/10.7759/cureus.23918View
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