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

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 nove...

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Detalles Bibliográficos
Autor principal: Pugh, Charles P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9076053/
https://www.ncbi.nlm.nih.gov/pubmed/35530903
http://dx.doi.org/10.7759/cureus.23918
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author Pugh, Charles P
author_facet Pugh, Charles P
author_sort Pugh, Charles P
collection PubMed
description 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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spelling pubmed-90760532022-05-07 Pseudohypoaldosteronism Type 1: The Presentation and Management of a Neonate With a Novel Mutation of the SCNN1B Gene Found in Two Hispanic Siblings Pugh, Charles P Cureus Genetics 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. Cureus 2022-04-07 /pmc/articles/PMC9076053/ /pubmed/35530903 http://dx.doi.org/10.7759/cureus.23918 Text en Copyright © 2022, Pugh et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Pugh, Charles P
Pseudohypoaldosteronism Type 1: The Presentation and Management of a Neonate With a Novel Mutation of the SCNN1B Gene Found in Two Hispanic Siblings
title Pseudohypoaldosteronism Type 1: The Presentation and Management of a Neonate With a Novel Mutation of the SCNN1B Gene Found in Two Hispanic Siblings
title_full Pseudohypoaldosteronism Type 1: The Presentation and Management of a Neonate With a Novel Mutation of the SCNN1B Gene Found in Two Hispanic Siblings
title_fullStr Pseudohypoaldosteronism Type 1: The Presentation and Management of a Neonate With a Novel Mutation of the SCNN1B Gene Found in Two Hispanic Siblings
title_full_unstemmed Pseudohypoaldosteronism Type 1: The Presentation and Management of a Neonate With a Novel Mutation of the SCNN1B Gene Found in Two Hispanic Siblings
title_short Pseudohypoaldosteronism Type 1: The Presentation and Management of a Neonate With a Novel Mutation of the SCNN1B Gene Found in Two Hispanic Siblings
title_sort pseudohypoaldosteronism type 1: the presentation and management of a neonate with a novel mutation of the scnn1b gene found in two hispanic siblings
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9076053/
https://www.ncbi.nlm.nih.gov/pubmed/35530903
http://dx.doi.org/10.7759/cureus.23918
work_keys_str_mv AT pughcharlesp pseudohypoaldosteronismtype1thepresentationandmanagementofaneonatewithanovelmutationofthescnn1bgenefoundintwohispanicsiblings

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