ArticleBMJ case reports2016
Management of a severe case of Gitelman syndrome with poor response to standard treatment.
Article in BMJ case reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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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.
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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.
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Who cites it
8 citing papers in PubMed, 13 citations in OpenAlex.
- Rare Case of Adult-Onset Gitelman Syndrome in a Patient With Multiple Comorbidities: A Case Report.Clinical case reports · 2025Article
- Adult-Onset Gitelman Syndrome: Case Analysis and Literature Review.Case reports in medicine · 2025Article
- Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians.International journal of molecular sciences · 2021Review
- Article
- Diagnosis and outpatient management of Gitelman syndrome from the first trimester of pregnancy.BMJ case reports · 2021Article
- Bilateral hamstring origin calcification: rare presentation of Gitelman syndrome.BMJ case reports · 2020Article
- Hypocalcaemia and hyponatraemia masquerading the diagnosis of Gitelman syndrome.BMJ case reports · 2019Article
- Gitelman Syndrome: A Rare Cause of Seizure Disorder and a Systematic Review.Case reports in medicine · 2019Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gitelman syndrome is an autosomal recessive distal renal tubular disorder caused by defective sodium chloride transporters. Biochemically, it presents with hypokalaemic metabolic alkalosis, hypomagnesaemia and hypocalciuria. It is usually managed with oral potassium supplements and potassium-sparing diuretics. We report a case of a 28-year-old woman whose condition worsened during pregnancy; she became resistant to standard management after delivery of her second child. She was managed in a specialist metabolic clinic through a comprehensive approach including perseverance with oral potassium supplement, weekly intravenous potassium and magnesium infusion, correction of vitamin D level and the offering of appropriate dietary advice; this controlled the patient's symptoms and prevented repeated hospital admissions. In this case report, we illustrate a patient's presentation and diagnosis with Gitelman syndrome, discuss triggers of exacerbation, review the relevant literature in terms of differential diagnoses and provide practical advice on the management of difficult cases in a specialist clinic.
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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.