ReviewCEN case reports2024
A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature.
Review in CEN case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 4 citations in OpenAlex.
- Mitochondrial dysfunction drives metabolic reprogramming in Gitelman syndrome: insights from proteomics and isogenic modeling.Human genetics · 2026Article
- Gitelman Syndrome Presenting With Syncope and Treatment-Refractory Hypokalemia in A Young Woman: A Case Report.Clinical case reports · 2026Article
- A case analysis of Gitelman syndrome complicated with Sjögren's disease.Frontiers in medicine · 2026Article
- Co-occurrence of Gitelman syndrome and turner syndrome: a Case Report and literature review.Frontiers in genetics · 2026Article
- Case Report: Gitelman syndrome with a suspected MEFV- associated autoinflammatory phenotype: diagnostic challenges in a complex case.Frontiers in immunology · 2026Article
- Unique genetic presentation of Gitelman syndrome in a Hispanic patient: Case report.SAGE open medical case reports · 2025Article
- Concurrent Gitelman Syndrome and Hyperthyroidism: Diagnostic Challenges in a 51-Year-Old Patient.The American journal of case reports · 2024Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 mutations in the SLC12A3 gene, which encodes the thiazide-sensitive Na-Cl cotransporter. Many variants in the SLC12A3 gene causing GS have been reported in literature. A new pathogenic homozygous mutation (c.2612G > T), absence of hypomagnesemia, and accompanying autoimmune thyroiditis are remarkable in our patient. There are a few Gitelman syndrome cases that are complicated with autoimmune thyroiditis in the literature. In this study, we present a case of Gitelman syndrome with a novel homozygous mutation and accompanying autoimmune thyroiditis and review of the literature.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.