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Article

Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene.

BMC nephrology - 14 Nov 2009

Kanda Kyoko, Nozu Kandai, Yokoyama Naoki, Morioka Ichiro, Miwa Akihiro, Hashimura Yuya, Kaito Hiroshi, Iijima Kazumoto, Matsuo Masafumi

Abstract excerpt

BACKGROUND: Autosomal dominant pseudohypoaldosteronism type 1 (PHA1) is a rare inherited condition that is characterized by renal resistance to aldosterone as well as salt wasting, hyperkalemia, and metabolic acidosis. Renal PHA1 is caused by mutations of the human mineralcorticoid receptor gene (MR), but it is a matter of debate whether MR mutations cause mineralcorticoid resistance via haploinsufficiency or...

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Identifiers

PMID: 19912655
DOI: 10.1186/1471-2369-10-37
PMCID: PMC2779785

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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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