Publicação
A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene
| dc.contributor.author | Silva, N | |
| dc.contributor.author | Costa, M | |
| dc.contributor.author | Silva, A | |
| dc.contributor.author | Sá, C | |
| dc.contributor.author | Martins, S | |
| dc.contributor.author | Antunes, A | |
| dc.contributor.author | Marques, O | |
| dc.contributor.author | Castedo, S | |
| dc.contributor.author | Pereira, A | |
| dc.date.accessioned | 2014-07-07T20:07:21Z | |
| dc.date.available | 2014-07-07T20:07:21Z | |
| dc.date.issued | 2013 | |
| dc.description.abstract | 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. | por |
| dc.identifier.citation | Endocrinol Nutr. 2013;60(1):33-6 | por |
| dc.identifier.uri | http://hdl.handle.net/10400.23/655 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.subject | Canais Epiteliais de Sódio | por |
| dc.subject | Pseudo-Hipoaldosteronismo | por |
| dc.subject | Mutação | por |
| dc.subject | Recém-Nascido | por |
| dc.title | A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| rcaap.rights | openAccess | por |
| rcaap.type | article | por |