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 novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature.

CEN case reports - 1 Oct 2024

Koca Oguzhan, Alay Mustafa Tarık, Murt Ahmet, Kalayci Yigin Aysel, Seven Mehmet, Bavunoglu Isil

Abstract excerpt

Gitelman syndrome is a rare, autosomal recessively inherited tubulopathy manifesting with hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. Common symptoms include fatigue, myalgia, reduced performance capacity, tetany, paresthesia, and delayed growth. However, as reported in the literature, diagnosis in some patients is prompted by an incidental finding of hypokalemia. GS develops due to...

Read the complete abstract on PubMed

Topics

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

Share to Gitelman Syndrome
Share to Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Solute Carrier Family 12, Member 3

Share to Thyroiditis, Autoimmune

Source

Open in PubMed Open full text

Identifiers

PMID: 38308744
DOI: 10.1007/s13730-023-00845-z
PMCID: PMC11442957

Genes

SLC12A3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature.PMID 38308744Read ↗

A NOVEL COMPOUND HETEROZYGOUS VARIANT OF SLC12A3 GENE IN A PEDIGREE WITH GITELMAN SYNDROME CO-EXISTENT WITH THYROID DYSFUNCTION.Semantic proximity Read ↗

Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome.Semantic proximity Read ↗

Genetic Analysis of Gitelman Syndrome: Co-existence with Hyperthyroidism in a Two-year-old Boy.Semantic proximity Read ↗

A novel compound heterozygous mutation of SLC12A3 gene in a pedigree with Gitelman syndrome and literature review.Semantic proximity Read ↗

A case report of Gitelman syndrome resulting from two novel mutations in SLC12A3 gene.Semantic proximity Read ↗

Gitelman's syndrome: a pathophysiological and clinical update.Semantic proximity Read ↗

Novel SLC12A3 mutation in Gitelman syndrome.Semantic proximity Read ↗

Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome.Semantic proximity Read ↗

Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.Semantic proximity Read ↗

A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review.Semantic proximity Read ↗

[Expert consensus for the diagnosis and treatment of patients with Gitelman syndrome].Semantic proximity Read ↗

Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome.Semantic proximity Read ↗

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