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

2013Journal article Open access
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dc.contributor.authorSilva, N
dc.contributor.authorCosta, M
dc.contributor.authorSilva, A
dc.contributor.authorSá, C
dc.contributor.authorMartins, S
dc.contributor.authorAntunes, A
dc.contributor.authorMarques, O
dc.contributor.authorCastedo, S
dc.contributor.authorPereira, A
dc.date.accessioned2014-07-07T20:07:21Z
dc.date.available2014-07-07T20:07:21Z
dc.date.issued2013
dc.description.abstractWe 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.por
dc.identifier.citationEndocrinol Nutr. 2013;60(1):33-6por
dc.identifier.urihttp://hdl.handle.net/10400.23/655
dc.language.isoengpor
dc.peerreviewedyespor
dc.subjectCanais Epiteliais de Sódiopor
dc.subjectPseudo-Hipoaldosteronismopor
dc.subjectMutaçãopor
dc.subjectRecém-Nascidopor
dc.titleA case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A genepor
dc.typejournal article
dspace.entity.typePublication
rcaap.rightsopenAccesspor
rcaap.typearticlepor

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