Utilize este identificador para referenciar este registo:
http://hdl.handle.net/10400.23/655
Título: | A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene |
Autor: | Silva, N Costa, M Silva, A Sá, C Martins, S Antunes, A Marques, O Castedo, S Pereira, A |
Palavras-chave: | Canais Epiteliais de Sódio Pseudo-Hipoaldosteronismo Mutação Recém-Nascido |
Data: | 2013 |
Citação: | Endocrinol Nutr. 2013;60(1):33-6 |
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. |
Peer review: | yes |
URI: | http://hdl.handle.net/10400.23/655 |
Aparece nas colecções: | HB - PED - Artigos |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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Endocrinol Nutr.pdf | 507,45 kB | Adobe PDF | Ver/Abrir |
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