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

Gitelman syndrome with normocalciuria - a case report.

BMC nephrology - 4 May 2022

Flisiński Mariusz, Skalska Ewa, Mączyńska Barbara, Butt-Hussaim Natalia, Sobczyńska-Tomaszewska Agnieszka, Haus Olga, Manitius Jacek

Abstract excerpt

BACKGROUND: Gitelman Syndrome (GS) is a hereditary tubulopathy associated with a biallelic inactivating mutations of the SLC12A3 gene encoding the thiazide-sensitive sodium-chloride cotransporter (NCCT). The typical clinical manifestation is a hypokalemic metabolic alkalosis with significant hypomagnesemia, and low urinary calcium excretion. Hypocalciuria is widely believed to be a hallmark of GS that...

Read the complete abstract on PubMed

Topics

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

Share to Renin
Share to Calcium
Share to Gitelman Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Magnesium

Share to Mutation

Share to Solute Carrier Family 12, Member 3

Source

Open in PubMed Open full text

Identifiers

PMID: 35509038
DOI: 10.1186/s12882-022-02782-y
PMCID: PMC9069753

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

Gitelman syndrome with normocalciuria - a case report.PMID 35509038Read ↗

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

Gitelman syndrome: pathophysiological and clinical aspects.Semantic proximity Read ↗

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

Gitelman Syndrome in a Pregnant WomanSemantic proximity Read ↗

Persistent hypokalemia due to a rare mutation in gitelman's syndrome.Semantic proximity Read ↗

[Gitelman´s syndrome as common cause of hypokalemia and hypomagnesemia].Semantic proximity Read ↗

Gitelman syndrome.Semantic proximity Read ↗

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

Novel SLC12A3 mutation in Gitelman syndrome.Semantic proximity Read ↗

Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations.Semantic proximity Read ↗

Molecular pathophysiology of Bartter's and Gitelman's syndromes.Semantic proximity Read ↗

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