ReviewFrontiers in pediatrics2022
Genetic Heterogeneity in Bartter Syndrome: Clinical and Practical Importance.
Review in Frontiers in pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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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Who cites it
13 citing papers in PubMed, 17 citations in OpenAlex.
- From Ion Channels to Blood Pressure: Genetic Disorders of Renal Tubular Transport.Electrolyte & blood pressure : E & BP · 2026Review
- Molecular Genetics of Bartter Syndrome: Bridging Genotype-Phenotype Correlations and Precision Therapeutics.Current issues in molecular biology · 2026Review
- Adult-Onset Bartter Syndrome Presenting as Refractory Hypokalemia and Metabolic Alkalosis: A Case Report.Clinical case reports · 2026Article
- Description of the novel variant c.784delG;p. (Ala262Profs*68) atBiomedical reports · 2026Article
- A newborn with type 1 Bartter syndrome: challenges in the treatment and development during 30 months follow-up-a case report.Frontiers in pediatrics · 2026Article
- Case Report: Type II Bartter syndrome with a novelFrontiers in pediatrics · 2025Article
- SLC12A1 variant c.1684+1 G>A causes Bartter syndrome type 1 by promoting exon 13 skipping.Nephrology (Carlton, Vic.) · 2024Article
- Chemotherapy-induced tubulopathy: a case report series.Frontiers in nephrology · 2024Article
- Metabolic alkalosis in cystic fibrosis: from vascular volume depletion to impaired bicarbonate excretion.Frontiers in endocrinology · 2024Review
- Bartter Syndrome Type 1 Due to NovelJCEM case reports · 2023Article
- Bartter Syndrome: Perspectives of a Pediatric Nephrologist.Electrolyte & blood pressure : E & BP · 2022Review
- Congenital Nephrogenic Diabetes Insipidus Secondary to Antenatal Type IVa Bartter Syndrome.Sage open pediatricsArticle
- APOL1 and APOL1-Associated Kidney Disease: A Common Disease, an Unusual Disease Gene - Proceedings of the Henry Shavelle Professorship.Glomerular diseasesReview
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
Bartter syndrome (BS) is a rare tubulopathy that causes polyuria, hypokalemia, hypochloremic metabolic alkalosis, and normotensive hyperreninemic hyperaldosteronism. It is characterized by locus, clinical, and allelic heterogeneity. Types 1-4 of BS are inherited according to an autosomal recessive pattern, while type 5, which is transient, is X linked. There are specific correlations between the clinical expression and the molecular defect, but since it is a rare disease, such studies are rare. Therapeutic interventions are different, being correlated with types of BS.
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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.