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

Silva, N; Costa, M; Silva, A; Sá, C; Martins, S; Antunes, A; Marques, O; Castedo, S; Pereira, A

http://hdl.handle.net/10400.23/655

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Resumo(s)

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.

Palavras-chave

Canais Epiteliais de Sódio Pseudo-Hipoaldosteronismo Mutação Recém-Nascido

URI

http://hdl.handle.net/10400.23/655

Citação

Endocrinol Nutr. 2013;60(1):33-6

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HB - PED - Artigos

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