Silva, NCosta, MSilva, ASá, CMartins, SAntunes, AMarques, OCastedo, SPereira, A2014-07-072014-07-072013Endocrinol Nutr. 2013;60(1):33-6http://hdl.handle.net/10400.23/655We 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.engCanais Epiteliais de SódioPseudo-HipoaldosteronismoMutaçãoRecém-Nascidojournal article