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Article

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

Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion - 1 Jan 2013

Silva Nicole, Costa Miguel, Silva Albina, Sá Carla, Martins Sofia, Antunes Ana, Marques Olinda, Castedo Sérgio, Pereira Almerinda

Abstract excerpt

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...

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PMID: 23031435
DOI: 10.1016/j.endonu.2012.07.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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