ArticleFrontiers in medicine2022
Late-Onset Bartter Syndrome Type II Due to a Novel Compound Heterozygous Mutation in
Article in Frontiers in medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 8 citations in OpenAlex.
- Molecular Genetics of Bartter Syndrome: Bridging Genotype-Phenotype Correlations and Precision Therapeutics.Current issues in molecular biology · 2026Review
- Description of the novel variant c.784delG;p. (Ala262Profs*68) atBiomedical reports · 2026Article
- NovelCase reports in genetics · 2025Article
- Successful kidney transplantation in a patient with late-onset type II Bartter syndrome: A rare case report.Clinical nephrology. Case studies · 2025Article
- Persistent renal dysfunction post-chemotherapy: a diagnostic conundrum in pediatric cancer survivorship - a case report.BMC pediatrics · 2024Article
- Genome mining yields putative disease-associated ROMK variants with distinct defects.PLoS genetics · 2023Article
- Research progress on renal calculus associate with inborn error of metabolism.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2023Review
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Bartter syndrome (BS) type II is a rare autosomal recessive renal tubular disorder caused by mutations in the Case Presentation: A 34-year-old woman was admitted with generalized body numbness and hand convulsions, without growth retardation. Laboratory tests revealed hypokalemic metabolic alkalosis, hyperreninemic hyperaldosteronism, and nephrocalcinosis. She was misdiagnosed during the initial diagnosis process and was finally diagnosed with late-onset BS type II Conclusion: We report a case of late-onset BS type II with a novel compound heterozygous mutation in
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