Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (729 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
A group of disorders caused by defective salt reabsorption in the ascending LOOP OF henle. It is characterized by severe salt-wasting, hypokalemia; hypercalciuria; metabolic alkalosis, and hyper-reninemic hyperaldosteronism without hypertension. There are several subtypes including ones due to mutations in the renal specific sodium-potassium-chloride symporters.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Syndrome, Bartter; Aldosteronism with Hyperplasia of the Adrenal Cortex; Bartter Disease; Bartter's Disease; Bartters Disease; Bartter's Syndrome; Bartters Syndrome; Syndrome, Bartter's.
Where it fits in the MeSH classification
- Broader topics
- Renal Tubular Transport, Inborn Errors; Hyperaldosteronism
- See also
- Sodium-Potassium-Chloride Symporters
Related concepts
- Henle
- Hypokalemia
- Hypercalciuria
- Alkalosis
- Hyperaldosteronism
- Hypertension
- Sodium-Potassium-Chloride Symporters
Research landscape
PubMed indexes 1,604 records tagged with the MeSH heading “Bartter Syndrome” (counts retrieved 2026-11-04). 195 of them (12.2%) were published from 2020 onward, and the busiest period so far is through 1999 with 820 records.
Reviews account for 281 records (17.5%) and meta-analyses for 0. Randomized controlled trials number 1 (0.1%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 820 |
| 2000-2009 | 327 |
| 2010-2019 | 262 |
| 2020 onward | 195 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 281 | 17.5% |
| Meta-analyses | 0 | 0.0% |
| Randomized controlled trials | 1 | 0.1% |
Method: PubMed query "Bartter Syndrome"[MeSH Terms] with publication-type and date filters, retrieved 2026-11-04.
Reading the evidence in metabolism and endocrine disease
Studies of diabetes, obesity and hormone disorders often follow blood tests such as glucose, HbA1c or hormone levels, which are stand-ins for outcomes that matter more, such as complications. Lifestyle and diet research is largely observational, and weight and diabetes trials can differ in how long people were followed. Nothing on this page is advice about medicines, insulin or diet; talk to a qualified clinician about your own situation. Check whether the outcome was a lab value or a clinical event, and the type and duration of the condition studied.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians | 2021 | Review article Design not recorded in structured metadata | 34 | cc by PMID 34768847 · DOI · PMC8584233 |
| Bartter and Gitelman syndromes: Questions of class | 2020 | Review article Design not recorded in structured metadata | 31 | cc by PMID 31664557 · DOI · PMC7501116 |
| Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome | 2017 | Research article Design not recorded in structured metadata | 26 | cc by PMID 28288174 · DOI · PMC5348002 |
| Peritoneal Dialysis-Associated Peritonitis in 2 Patients with Bartter Syndrome and End-Stage Kidney Disease: A Case Report | 2026 | Research article Design not recorded in structured metadata | 0 | cc by PMID 42616711 · DOI · PMC13688361 |
Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Gitelman and Bartter syndromes are rare inherited diseases that belong to the category of renal tubulopathies.
- Closing excerpt
- Finally, we highlight several objectives to continue advancing in the characterization of both etiologies.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (191 words)
Gitelman and Bartter syndromes are rare inherited diseases that belong to the category of renal tubulopathies. The genes associated with these pathologies encode electrolyte transport proteins located in the nephron, particularly in the Distal Convoluted Tubule and Ascending Loop of Henle. Therefore, both syndromes are characterized by alterations in the secretion and reabsorption processes that occur in these regions. Patients suffer from deficiencies in the concentration of electrolytes in the blood and urine, which leads to different systemic consequences related to these salt-wasting processes. The main clinical features of both syndromes are hypokalemia, hypochloremia, metabolic alkalosis, hyperreninemia and hyperaldosteronism. Despite having a different molecular etiology, Gitelman and Bartter syndromes share a relevant number of clinical symptoms, and they have similar therapeutic approaches. The main basis of their treatment consists of electrolytes supplements accompanied by dietary changes. Specifically for Bartter syndrome, the use of non-steroidal anti-inflammatory drugs is also strongly supported. This review aims to address the latest diagnostic challenges and therapeutic approaches, as well as relevant recent research on the biology of the proteins involved in disease. Finally, we highlight several objectives to continue advancing in the characterization of both etiologies.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 34768847 · DOI · PMC8584233
Bartter and Gitelman syndromes: Questions of class [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Bartter and Gitelman syndromes are rare inherited tubulopathies characterized by hypokalaemic, hypochloraemic metabolic alkalosis.
- Closing excerpt
- We also review the various proposed classifications and explain why a gene-based classification constitutes a pragmatic solution.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (154 words)
Bartter and Gitelman syndromes are rare inherited tubulopathies characterized by hypokalaemic, hypochloraemic metabolic alkalosis. They are caused by mutations in at least 7 genes involved in the reabsorption of sodium in the thick ascending limb (TAL) of the loop of Henle and/or the distal convoluted tubule (DCT). Different subtypes can be distinguished and various classifications have been proposed based on clinical symptoms and/or the underlying genetic cause. Yet, the clinical phenotype can show remarkable variability, leading to potential divergences between classifications. These problems mostly relate to uncertainties over the role of the basolateral chloride exit channel CLCNKB, expressed in both TAL and DCT and to what degree the closely related paralogue CLCNKA can compensate for the loss of CLCNKB function. Here, we review what is known about the physiology of the transport proteins involved in these disorders. We also review the various proposed classifications and explain why a gene-based classification constitutes a pragmatic solution.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 31664557 · DOI · PMC7501116
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome [3]
Abstract reading summary — source excerpts
- Opening excerpt
- IntroductionType III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb.
- Closing excerpt
- Importantly, two CLCNKB mutations not previously described were found in our cohort.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (266 words)
IntroductionType III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic characterization in a cohort of 30 patients, one of the largest series described. By comparing with other published populations, and considering that 80% of our patients presented the p.Ala204Thr Spanish founder mutation presumably associated with a common phenotype, we aimed to test the hypothesis that allelic differences could explain the wide phenotypic variability observed in patients with type III BS.MethodsClinical data were retrieved from the referral centers. The exon regions and flanking intronic sequences of the CLCNKB gene were screened for mutations by polymerase chain reaction (PCR) followed by direct Sanger sequencing. Presence of gross deletions or duplications in the region was checked for by MLPA and QMPSF analyses.ResultsPolyuria, polydipsia and dehydration were the main common symptoms. Metabolic alkalosis and hypokalemia of renal origin were detected in all patients at diagnosis. Calciuria levels were variable: hypercalciuria was detected in 31% of patients, while 23% had hypocalciuria. Nephrocalcinosis was diagnosed in 20% of the cohort. Two novel CLCNKB mutations were identified: a small homozygous deletion (c.753delG) in one patient and a small deletion (c.1026delC) in another. The latter was present in compound heterozygosis with the already previously described p.Glu442Gly mutation. No phenotypic association was obtained regarding the genotype.ConclusionA poor correlation was found between a specific type of mutation in the CLCNKB gene and type III BS phenotype. Importantly, two CLCNKB mutations not previously described were found in our cohort.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 28288174 · DOI · PMC5348002
Peritoneal Dialysis-Associated Peritonitis in 2 Patients with Bartter Syndrome and End-Stage Kidney Disease: A Case Report [4]
Abstract reading summary — source excerpts
- Opening excerpt
- IntroductionBartter syndrome (BS) is a rare inherited salt-wasting disorder affecting the thick ascending limb of the loop of Henle.
- Closing excerpt
- ConclusionAlthough no causal relationship can be established, these observations highlight the need for heightened vigilance regarding infectious complications in this population.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (118 words)
IntroductionBartter syndrome (BS) is a rare inherited salt-wasting disorder affecting the thick ascending limb of the loop of Henle. It is characterized by hypokalemic metabolic alkalosis, polyuria, and secondary normotensive hyperaldosteronism. A minority of patients may progress to end-stage kidney disease while maintaining polyuria and normokalemia. Peritoneal dialysis (PD) may represent a suitable option for these patients when kidney transplantation is not available. However, due to its rarity, there are no data on PD-related outcomes.MethodsHere, we report 2 cases of PD treatment in BS from two Italian referral centers.ResultsIn both cases, PD was discontinued early because of peritonitis.ConclusionAlthough no causal relationship can be established, these observations highlight the need for heightened vigilance regarding infectious complications in this population.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42616711 · DOI · PMC13688361
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference [5]
- Research article Bartter syndrome [6]
- Research article Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects [7]
- Research article Bartter and related syndromes: the puzzle is almost solved [8]
- Research article Role of prostaglandins in the pathogenesis of Bartter's syndrome [9]
- Research article Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders [10]
References
- Nuñez-Gonzalez L, Carrera N, Garcia-Gonzalez MA. Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians. . 2021. PMID 34768847 · DOI · PMC8584233
- Besouw MTP, Kleta R, Bockenhauer D. Bartter and Gitelman syndromes: Questions of class. . 2020. PMID 31664557 · DOI · PMC7501116
- García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Madrid Á, Chocrón S, et al.. Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome. . 2017. PMID 28288174 · DOI · PMC5348002
- Vitagliano C, Florio G, Piscopo G, Silvestri F, Russo R, Molfino I, et al.. Peritoneal Dialysis-Associated Peritonitis in 2 Patients with Bartter Syndrome and End-Stage Kidney Disease: A Case Report. . 2026. PMID 42616711 · DOI · PMC13688361
- Blanchard A, Bockenhauer D, Bolignano D, Calò LA, Cosyns E, Devuyst O, et al.. Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2017. PMID 28003083 · DOI
- Hebert SC. Bartter syndrome. Curr Opin Nephrol Hypertens. 2003. PMID 12920401 · DOI
- Seyberth HW, Schlingmann KP. Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects. Pediatr Nephrol. 2011. PMID 21503667 · DOI · PMC3163795
- Rodríguez-Soriano J. Bartter and related syndromes: the puzzle is almost solved. Pediatr Nephrol. 1998. PMID 9655365 · DOI
- Fichman MP, Telfer N, Zia P, Speckart P, Golub M, Rude R. Role of prostaglandins in the pathogenesis of Bartter's syndrome. Am J Med. 1976. PMID 798488 · DOI
- Konrad M, Nijenhuis T, Ariceta G, Bertholet-Thomas A, Calo LA, Capasso G, et al.. Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders. Kidney Int. 2021. PMID 33509356 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-11-04; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-11-04.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.