title: A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene.
abstract: 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.
authors.affiliation: Neonatal Intensive Care Department, Hospital Braga, Portugal. nicolemad@gmail.com
authors.forename: Nicole
authors.initials: N
authors.lastname: Silva
authors.forename: Miguel
authors.initials: M
authors.lastname: Costa
authors.forename: Albina
authors.initials: A
authors.lastname: Silva
authors.forename: Carla
authors.initials: C
authors.lastname: Sá
authors.forename: Sofia
authors.initials: S
authors.lastname: Martins
authors.forename: Ana
authors.initials: A
authors.lastname: Antunes
authors.forename: Olinda
authors.initials: O
authors.lastname: Marques
authors.forename: Sérgio
authors.initials: S
authors.lastname: Castedo
authors.forename: Almerinda
authors.initials: A
authors.lastname: Pereira
mesh_terms: D053503:Epithelial Sodium Channels / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D011546:Pseudohypoaldosteronism / Q000235:genetics*
chemical_list: D053503:Epithelial Sodium Channels; C507045:SCNN1A protein, human