A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene

Detalhes bibliográficos
Autor(a) principal: Silva, N
Data de Publicação: 2013
Outros Autores: Costa, M, Silva, A, Sá, C, Martins, S, Antunes, A, Marques, O, Castedo, S, Pereira, A
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.23/655
Resumo: We report a neonatal case of systemic pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene (homozygous c.1052+2dupT in intron 3) in which the patient presented with life-threatening hyperkalemia, hyponatremia and metabolic acidosis. It remains uncertain if there is genotype-phenotype correlation, due to the rarity of the disease. This mutation, which to our best knowledge has not been described before, was associated with a very severe phenotype requiring aggressive therapy.
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spelling A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A geneCanais Epiteliais de SódioPseudo-HipoaldosteronismoMutaçãoRecém-NascidoWe report a neonatal case of systemic pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene (homozygous c.1052+2dupT in intron 3) in which the patient presented with life-threatening hyperkalemia, hyponatremia and metabolic acidosis. It remains uncertain if there is genotype-phenotype correlation, due to the rarity of the disease. This mutation, which to our best knowledge has not been described before, was associated with a very severe phenotype requiring aggressive therapy.Repositório Científico do Hospital de BragaSilva, NCosta, MSilva, ASá, CMartins, SAntunes, AMarques, OCastedo, SPereira, A2014-07-07T20:07:21Z2013-01-01T00:00:00Z2013-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.23/655engEndocrinol Nutr. 2013;60(1):33-6info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-09-21T09:02:22ZPortal AgregadorONG
dc.title.none.fl_str_mv A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene
title A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene
spellingShingle A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene
Silva, N
Canais Epiteliais de Sódio
Pseudo-Hipoaldosteronismo
Mutação
Recém-Nascido
title_short A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene
title_full A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene
title_fullStr A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene
title_full_unstemmed A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene
title_sort A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene
author Silva, N
author_facet Silva, N
Costa, M
Silva, A
Sá, C
Martins, S
Antunes, A
Marques, O
Castedo, S
Pereira, A
author_role author
author2 Costa, M
Silva, A
Sá, C
Martins, S
Antunes, A
Marques, O
Castedo, S
Pereira, A
author2_role author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Hospital de Braga
dc.contributor.author.fl_str_mv Silva, N
Costa, M
Silva, A
Sá, C
Martins, S
Antunes, A
Marques, O
Castedo, S
Pereira, A
dc.subject.por.fl_str_mv Canais Epiteliais de Sódio
Pseudo-Hipoaldosteronismo
Mutação
Recém-Nascido
topic Canais Epiteliais de Sódio
Pseudo-Hipoaldosteronismo
Mutação
Recém-Nascido
description We report a neonatal case of systemic pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene (homozygous c.1052+2dupT in intron 3) in which the patient presented with life-threatening hyperkalemia, hyponatremia and metabolic acidosis. It remains uncertain if there is genotype-phenotype correlation, due to the rarity of the disease. This mutation, which to our best knowledge has not been described before, was associated with a very severe phenotype requiring aggressive therapy.
publishDate 2013
dc.date.none.fl_str_mv 2013-01-01T00:00:00Z
2013-01-01T00:00:00Z
2014-07-07T20:07:21Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.23/655
url http://hdl.handle.net/10400.23/655
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Endocrinol Nutr. 2013;60(1):33-6
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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repository.mail.fl_str_mv
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