Discover Community Create You

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

Two novel mutations in the CLCNKB gene leading to classic Bartter syndrome presenting as syncope and hypertension in a 13-year-old boy.

BMJ case reports - 5 Jul 2020

Le Binh T, Duong Cuong M, Nguyen Tien Q, Bui Chi-Bao

Abstract excerpt

Classic Bartter syndrome is a rare condition caused by mutations in the CLCNKB gene and characterised by metabolic alkalosis, hypokalaemia, hyper-reninaemia and hyperaldosteronism. Early signs and symptoms usually occur before a child's sixth birthday and include polyuria and developmental delay. We treated a 13-year-old Vietnamese boy with this syndrome presenting with atypical presentations including syncope...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Bartter Syndrome
Share to Chloride Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glomerulosclerosis, Focal Segmental

Share to Hypertension

Share to Mutation

Share to Syncope

Source

Open in PubMed Open full text

Identifiers

PMID: 32624484
DOI: 10.1136/bcr-2019-233872
PMCID: PMC7341725

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two novel mutations in the CLCNKB gene leading to classic Bartter syndrome presenting as syncope and hypertension in a 13-year-old boy.PMID 32624484Read ↗

A novel homozygous CLCNKB variant: An early presentation of classic Bartter syndrome in a neonate.Semantic proximity Read ↗

A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis.Semantic proximity Read ↗

Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review.Semantic proximity Read ↗

A New Case Report of a CLCNKB Complex Heterozygous Mutation in Adult-Onset Type III Bartter Syndrome.Semantic proximity Read ↗

Antenatal Bartter syndrome: a new compound heterozygous mutation in exon 2 of KCNJ1 gene.Semantic proximity Read ↗

Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II.Semantic proximity Read ↗

Adult presentation of Bartter syndrome type IV with erythrocytosis.Semantic proximity Read ↗

Bartter Syndrome Type 2 in Adolescence: Clinical Features and Genetic ConfirmationSemantic proximity Read ↗

Identification of Rare Variants Causing Early-Onset Bartter Syndrome: a Clinical, Genetic, and Biophysical StudySemantic proximity Read ↗

A Novel Mutation of KCNJ1 Identified in an Affected Child with NephrolithiasisSemantic proximity Read ↗

A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis.Semantic proximity Read ↗

Phenotypic and genotypic characteristics of children with Bartter syndrome.Semantic proximity Read ↗

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