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

• Autor(es): Silva, N ; Costa, M ; Silva, A ; Sá, C ; Martins, S ; Antunes, A ; Marques, O ; Castedo, S ; Pereira, A
• Data: 2013
• Identificador Persistente: http://hdl.handle.net/10400.23/655
• Origem: Repositório Científico do Hospital de Braga
• Assunto(s): Canais Epiteliais de Sódio; Pseudo-Hipoaldosteronismo; Mutação; Recém-Nascido
• Tipo de Documento: Artigo
• Idioma: Inglês

Descrição

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.