ArticleFrontiers in pediatrics2021
Clinical and Genetic Features in 31 Serial Chinese Children With Gitelman Syndrome.
Article in Frontiers in pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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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.
The trial behind it
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
10 citing papers in PubMed, 10 citations in OpenAlex.
- Serum metabolic profiling analysis of Gitelman syndrome using untargeted metabolomics.Renal failure · 2026Article
- Gitelman Syndrome in a Child Presenting With Polyuria and Polydipsia: Diagnostic Challenges in a Resource-Limited Setting.Case reports in nephrology · 2026Article
- Clinical phenotypes and genetic analysis of 30 children with Gitelman syndrome.Frontiers in pediatrics · 2026Article
- Case Report: Long-term follow-up of a schoolboy with Gitelman syndrome and epilepsy-causation or coincidence?Frontiers in pediatrics · 2026Article
- Novel Pathogenic Genotype in SLC12A3 Associated to Gitelman Syndrome: A Case Report.Nephrology (Carlton, Vic.) · 2025Article
- Functional evaluation of novel compound heterozygous variants in SLC12A3 of Gitelman syndrome.Orphanet journal of rare diseases · 2025Article
- Gitelman syndrome in a pediatric patient: a case report and literature review.Frontiers in pediatrics · 2025Article
- Genotype-phenotype correlations in children with Gitelman syndrome.Clinical and experimental nephrology · 2024Article
- Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.International journal of molecular sciences · 2022Article
- Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians.International journal of molecular sciences · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gitelman syndrome (GS, OMIM 263800) is a genetic congenital tubulopathy associated with salt loss, which is characterized by hypokalemic metabolic toxicity, hypocalciuria, and hypomagnesemia. GS, which is typically detected in adolescence or adulthood, has long been considered a benign tubular lesion; however, the disease is associated with a significant decrease in the quality of life. In this study, we assessed the genotype-phenotype correlations based on the medical histories, clinical symptoms, laboratory test results, and whole-exome sequencing profiles from pediatric patients with GS. Between January 2014 and December 2020, all 31 consecutively enrolled patients complained of fatigue, salt craving, and muscle weakness. Sixteen patients demonstrated growth retardation, and five patients presented with nocturia and constipation. All patients presented with hypokalemic metabolic alkalosis, normal blood pressure, hyperaldosteronism, and a preserved glomerular filtration rate, and 24 of the 31 (77.4%) patients had hypomagnesemia. Homozygous, compound heterozygous, and heterozygous mutations in
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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.