Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Liddle syndrome with a SCNN1B mutation: a case report and systematic review.

BMC nephrology - 21 Jul 2025

Tang Qian, Zhou Yangfan, Liu Lin, Chen Min, Liu Lin, Wang Yan, Zhou Guangju, Xie Meijun

Abstract excerpt

INTRODUCTION: Liddle syndrome is an autosomal dominant disorder caused by pathogenic gain-of-function variants in genes encoding epithelial sodium channel subunits, including α (SCNN1A), β (SCNN1B), and γ (SCNN1G). Among these, SCNN1B variants are most prevalent, with nearly all previously reported cases presenting with hypertension. CASE PRESENTATION: We report a 16-year-old Chinese female patient who presented...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Epithelial Sodium Channels
Share to Hypokalemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 40696293
DOI: 10.1186/s12882-025-04252-7
PMCID: PMC12281814

Genes

SCNN1B
SCNN1A
SCNN1G

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Liddle syndrome with a SCNN1B mutation: a case report and systematic review.PMID 40696293Read ↗

Liddle Syndrome Caused by SCNN1B Mutation Presenting With Severe Early-Onset Hypertension and Hypokalemia in an Adolescent: A Case ReportSemantic proximity Read ↗

Liddle Syndrome with a SCNN1A Mutation: A Case Report and Literature Review.Semantic proximity Read ↗

A frameshift mutation in the SCNN1B gene in a family with Liddle syndrome: A case report and systematic review.Semantic proximity Read ↗

Liddle Syndrome: Review of the Literature and Description of a New Case.Semantic proximity Read ↗

Clinical and genetic characteristics of the patients with hypertension and hypokalemia carrying a novel SCNN1A mutation.Semantic proximity Read ↗

Liddle syndrome misdiagnosed as primary aldosteronism is caused by inaccurate aldosterone-rennin detection while a novel SCNN1G mutation is discovered.Semantic proximity Read ↗

Genetic screening of SCNN1B and SCNN1G genes in early-onset hypertensive patients helps to identify Liddle syndrome.Semantic proximity Read ↗

Mutation analysis of SCNN1B in a family with Liddle's syndrome.Semantic proximity Read ↗

Reverse Phenotypes of Patients with Genetically Confirmed Liddle Syndrome.Semantic proximity Read ↗

A Rare Case of Familiar Hypertension Presenting with Hypertensive Encephalopathy in an Elderly Patient: A Diagnostic Dilemma: A Presentation of Liddle's Syndrome due to Novel Mutation in SCNN1G Gene.Semantic proximity Read ↗

Liddle's Syndrome: A Case Report.Semantic proximity Read ↗

Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.