ReviewInternational urology and nephrology2018
Gitelman syndrome: an analysis of the underlying pathophysiologic mechanisms of acid-base and electrolyte abnormalities.
Review in International urology and nephrology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 29 citations in OpenAlex.
- Loop Diuretic Dose Intensification versus Adjuvant Thiazide for Diuretic Resistance in Acute Heart Failure: Mechanistic Randomized Controlled Trial.Journal of the American Society of Nephrology : JASN · 2026Article
- Case Report: Unusual electrolyte changes in primary hyperparathyroidism-a call to suspect underlying Gitelman syndrome.Frontiers in endocrinology · 2026Article
- Gitelman syndrome patient managed with amiloride during pregnancy and lactation.BMC nephrology · 2024Article
- Genotype-phenotype correlations in children with Gitelman syndrome.Clinical and experimental nephrology · 2024Article
- [Consensus recommendations on the diagnosis and treatment of hyponatremia from the Austrian Society for Nephrology 2024].Wiener klinische Wochenschrift · 2024Article
- Intriguing association between type 1 diabetes mellitus, Gitelman syndrome and Cacci-Ricci disease: Triad of rare diseases: A case report.SAGE open medical case reports · 2024Article
- Two Brothers from Macedonia with Gitelman Syndrome.Balkan journal of medical genetics : BJMG · 2023Article
- Novel Intronic Mutations of theInternational journal of general medicine · 2023Article
- Advanced chronic kidney disease with life-threatening hypokalemia due to undiagnosed Gitelman syndrome.Clinical nephrology. Case studies · 2023Article
- Persistent mild hypokalemia in an otherwise healthy 6-year-old girl: Answers.Pediatric nephrology (Berlin, Germany) · 2022Article
- Renal calcium and magnesium handling in Gitelman syndrome.American journal of translational research · 2022Review
- Anesthetic Challenges of an Adolescent Patient with Epidermolysis Bullosa and Gitelman's Syndrome Undergoing Posterior Spinal Fusion Surgery.Journal of pediatric genetics · 2021Article
- Long-term Clinical Course after Living Kidney Donation by a Patient with Gitelman Syndrome Harboring a Compound Heterozygous Mutation of the SLC12A3 Gene.Internal medicine (Tokyo, Japan) · 2021Article
- Gitelman Syndrome: A Rare Case of Hypokalaemia and a Novel Mutation.European journal of case reports in internal medicine · 2021Article
- Congenital Adrenal Hyperplasia (CAH) and Gitelman Syndrome (GS): Overlapping Symptoms in an Uncommon Association.Case reports in pediatrics · 2021Article
- A novel compound heterozygous mutation of SLC12A3 gene in a pedigree with Gitelman syndrome and literature review.Genes & genomics · 2020Review
- Type 2 diabetes mellitus caused by Gitelman syndrome-related hypokalemia: A case report.Medicine · 2020Article
- Hypokalemia: a clinical update.Endocrine connections · 2018Review
- Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients.Frontiers in endocrinology · 2018Article
- METFORMIN-AND GLICLAZIDE-BASED DIABETES TREATMENT EXPERIENCE IN A PATIENT WITH GITELMAN SYNDROME.Acta endocrinologica (Bucharest, Romania : 2005)Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gitelman syndrome is the most common inherited tubular disease resulting from mutations of the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter in the early distal convoluted tubules. The review presents the underlying pathophysiologic mechanisms of acid-base and electrolyte abnormalities observed in patients with Gitelman syndrome. The syndrome is usually characterized by hypokalemic metabolic alkalosis in combination with hypomagnesemia and hypocalciuria. Additionally, increased chloride excretion and renin/aldosterone levels, hypophosphatemia (occasionally), hyponatremia (rarely) and glucose intolerance/insulin resistance have been reported. The knowledge of the pathophysiologic mechanisms is useful for the treatment of patients with Gitelman syndrome as well as for the understanding of other tubular diseases.
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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.