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A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A ...
Silva, N; Costa, M; Silva, A; Sá, C; Martins, S; Antunes, A; Marques, O; Castedo, S; Pereira, AWe 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 de...
Data: 2013
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Origem: Repositório Científico do Hospital de Braga
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