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

[A clinical and hereditary analysis of novel complex heterozygous KCNJ1 mutation in a Bartter syndrome type Ⅱ patient].

Zhonghua nei ke za zhi - 1 Oct 2017

Li X Y, Jiang Y, Xu L J, Duan L, Peng X Y, Chen L M, Xia W B, Xing X P

Abstract excerpt

Bartter syndrome (BS) is a hereditary condition transmitted as an autosomal recessive (Bartter type 1 to 4) or dominant trait (Bartter type 5). The disease associates hypokalemic alkalosis with varying degrees of hypercalciuria. Here we presented a case (BS type Ⅱ) of a 17 years old female presented with polyhydramnios, polyuria, nephrocalcinosis and hypokalemia, which was alleviated after treatment with...

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 Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypercalciuria

Share to Mutation

Share to Phenotype

Share to Potassium Channels, Inwardly Rectifying

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 29036958
DOI: 10.3760/cma.j.issn.0578-1426.2017.10.010

Genes

KCNJ1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[A clinical and hereditary analysis of novel complex heterozygous KCNJ1 mutation in a Bartter syndrome type Ⅱ patient].PMID 29036958Read ↗

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

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

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

[Bartter's syndrome and Gitelman's syndrome: Pathogenesis, pathophysiology, and therapy].Semantic proximity Read ↗

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

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

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

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

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

A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism.Semantic proximity Read ↗

[Two cases of Dent disease type 1 with Bartter-like phenotype and literature review].Semantic proximity Read ↗

Clinical Features and Unusual Heterozygous Mutations in Patients with Renal Hypokalemia.Semantic proximity Read ↗

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