ReviewEndocrine2012
Gitelman's syndrome: a pathophysiological and clinical update.
Review in Endocrine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
36 citing papers in PubMed, 70 citations in OpenAlex.
- Acute quadriparesis revealing Gitelman syndrome: a case report.Annals of medicine and surgery (2012) · 2026Article
- Gitelman Syndrome in the Sixth Decade: An Atypical Presentation with Severe Electrolyte Abnormalities and Genetic Heterogeneity.Annals of African medicine · 2026Article
- Clinical and genetic features in 30 children with Gitelman syndrome.BMC nephrology · 2026Article
- Article
- Gitelman syndrome presenting with lower limb paralysis: a case report.Journal of medical case reports · 2025Article
- Unique genetic presentation of Gitelman syndrome in a Hispanic patient: Case report.SAGE open medical case reports · 2025Article
- Autosomal Dominant Calpainopathy in a Diabetic Patient Complicated by Functional Gitelman Syndrome.Case reports in medicine · 2025Article
- First Diagnosis of Gitelman Syndrome During Pregnancy in an Adolescent Female: A Case Report.Cureus · 2024Article
- Heart's Dangerous Symphony: Torsade De Pointes Unleashed by Gitelman Syndrome-Induced Hypomagnesemia.Cureus · 2023Article
- Molecular complexity analysis of the diagnosis of Gitelman syndrome in China.Open life sciences · 2023Article
- A case of Gitelman syndrome with membranous nephropathy.BMC nephrology · 2022Article
- Gitelman syndrome and ectopic calcification in the retina and joints.Clinical kidney journal · 2021Review
- Kidney stones and moderate proteinuria as the rare manifestations of Gitelman syndrome.BMC nephrology · 2021Article
- Calcium Transport in the Kidney and Disease Processes.Frontiers in endocrinology · 2021Review
- Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound HeterozygousBioMed research international · 2021Article
- Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes.BMC nephrology · 2020Article
- Early onset children's Gitelman syndrome with severe hypokalaemia: a case report.BMC pediatrics · 2020Article
- Multiple neoplasia in a patient with Gitelman syndrome harboring germline monoallelicNPJ genomic medicine · 2020Article
- Gitelman syndrome caused by a novel hemiallelic missense mutation inHuman genome variation · 2020Article
- A case of Gitelman syndrome: our experience with a patient treated in clinical practice on a local island.Journal of rural medicine : JRM · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gitelman's syndrome (GS), also known as familial hypokalemic hypomagnesemia, is a rare autosomal recessive hereditary salt-losing tubulopathy, characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria, which is usually caused by mutations in the SLC12A3 gene encoding the thiazide-sensitive sodium chloride contrasporter. Because 18-40% of suspected GS patients carry only one SLC12A3 mutant allele, large genomic rearrangements must account for unidentified mutations. The clinical manifestations of GS are highly variable in terms of age at presentation, severity of symptoms, and biochemical abnormalities. Molecular analysis in our sibling's patients revealed compound heterozygous mutations in the coding region of SLC12A3 as underlying their disease. Such compound heterozygosity can result in disease phenotype for such loss of function mutations in the absence of homozygosis through consanguineous inheritance of mutant alleles, identical by descent. Missense mutations account for approximately 70% of the mutations in GS, and there is a predisposition to large rearrangements caused by the presence of repeated sequences within the SLC12A3. We report two adult male siblings of Jewish origin with late onset GS, who presented in their fifth decade of life with muscle weakness, hypokalemia, hypomagnesaemia, and metabolic alkalosis. Rapid clinical and biochemical improvement was achieved by replacement therapy with potassium and magnesium.
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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.