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Updated: May 18, 2026

A Novel Method: Super-selective Adrenal Venous Sampling
Published on: September 15, 2017
A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene
Nicole Silva1, Miguel Costa, Albina Silva
1Neonatal Intensive Care Department, Hospital Braga, Portugal. nicolemad@gmail.com
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.
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