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Article

Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism.

Human mutation - 1 Jan 2007

Pujo Lucie, Fagart Jérôme, Gary Françoise, Papadimitriou Dimitris T, Claës Aurélie, Jeunemaître Xavier, Zennaro Maria-Christina

Abstract excerpt

Aldosterone plays a key role in electrolyte balance and blood pressure regulation. Type 1 pseudohypoaldosteronism (PHA1) is a primary form of mineralocorticoid resistance characterized in the newborn by salt wasting, hyperkalemia, and failure to thrive. Inactivating mutations of the mineralocorticoid receptor (MR; NR3C2) are responsible for autosomal dominant and some sporadic cases of PHA1. The question as to...

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Identifiers

PMID: 16972228
DOI: 10.1002/humu.20371

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism.PMID 16972228Read ↗

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Renal pseudohypoaldosteronism type 1 – an adult case series including a novel gene variantSemantic proximity Read ↗

Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.Semantic proximity Read ↗

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