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Article

Reverse Phenotypes of Patients with Genetically Confirmed Liddle Syndrome.

Clinical journal of the American Society of Nephrology : CJASN - 1 May 2024

Granhøj Jeff, Nøhr Thomas K, Hinrichs Gitte R, Rasmussen Maria, Svenningsen Per

Abstract excerpt

BACKGROUND: Liddle syndrome was initially characterized by hypertension, hypokalemia, metabolic alkalosis, and suppressed plasma renin and aldosterone, resulting from gain-of-function variants in the epithelial Na + channel (ENaC). Efficient treatment with ENaC inhibitors is available, but the phenotypic spectrum of genetically confirmed Liddle syndrome is unknown, and some patients may remain undiagnosed and at...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38265765
DOI: 10.2215/CJN.0000000000000430
PMCID: PMC11108250

Genes

SCNN1B
SCNN1G

Provenance

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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Reverse Phenotypes of Patients with Genetically Confirmed Liddle Syndrome.PMID 38265765Read ↗

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Prevalence of Liddle Syndrome Among Young Hypertension Patients of Undetermined Cause in a Chinese PopulationSemantic proximity Read ↗

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