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Article

A novel mutation of the epithelial Na+ channel causes type 1 pseudohypoaldosteronism.

Pediatric nephrology (Berlin, Germany) - 1 Oct 2002

Bonny Olivier, Knoers Nine, Monnens Leo, Rossier Bernard C

Abstract excerpt

Type I pseudohypoaldosteronism (PHA-1) is a rare salt wasting syndrome occurring soon after birth, characterized by apathy and severe dehydration accompanied by hyponatremia, hyperkalemia, and metabolic acidosis despite high plasma aldosterone concentrations. The molecular defect involved in the systemic autosomal recessive form of the syndrome has been identified. Mutations in all three genes encoding the...

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PMID: 12376807
DOI: 10.1007/s00467-002-0945-8

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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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