ReviewWorld journal of pediatrics : WJP2021
Dent disease: classification, heterogeneity and diagnosis.
Review in World journal of pediatrics : WJP, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 29 citations in OpenAlex.
- Coexistence of a NovelJournal of clinical medicine · 2026Article
- Molecular Basis of Rare Inherited Tubulopathies of the Kidney: A Primer for Clinicians.International journal of molecular sciences · 2026Review
- Molecular Mechanisms of CLCN5 Missense Mutations in Dent Disease Type 1: A Comprehensive Computational Analysis and Clinical Correlations in a Chinese Cohort.Journal of cellular and molecular medicine · 2026Article
- Genetic and clinical phenotype of Dent disease in Chinese children and the etiological analysis of early - onset chronic kidney disease.Italian journal of pediatrics · 2025Article
- Three intronic variants altering RNA splicing were identified in the CLCN5 gene by minigene assay.BMC medical genomics · 2025Article
- Bioinformatics analysis of aZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2025Article
- Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders.Journal of inherited metabolic disease · 2025Review
- Clinical features and genetic analysis of 15 Chinese children with dent disease.Renal failure · 2024Article
- A narrative review of monogenic disorders causing nephrolithiasis and chronic kidney disease.Nephrology (Carlton, Vic.) · 2024Review
- Macrocycle-Based Supramolecular Drug Delivery Systems: A Concise Review.Molecules (Basel, Switzerland) · 2024Review
- A missense mutant of ocrl1 promotes apoptosis of tubular epithelial cells and disrupts endocytosis and the cell cycle of podocytes in Dent-2 Disease.Cell communication and signaling : CCS · 2023Article
- Dent disease manifesting as nephrotic syndrome.Intractable & rare diseases research · 2023Article
- A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report.Frontiers in pediatrics · 2022Article
- Dual-Genetic Etiology in an Atypical Dent Disease Phenotype Which Combines Features of Focal Segmental Glomerulosclerosis and Ellis-Van Creveld-Like Syndrome: A Case Report.Case reports in nephrology and dialysisArticle
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundDent disease is a rare tubulopathy characterized by manifestations of proximal tubular dysfunction, which occurs almost exclusively in males. It mainly presents symptoms in early childhood and may progress to end-stage renal failure between the 3rd and 5th decades of human life. According to its various genetic basis and to clinical signs and symptoms, researchers define two forms of Dent disease (Dent diseases 1 and 2) and suggest that these forms are produced by mutations in the CLCN5 and OCRL genes, respectively. Dent diseases 1 and 2 account for 60% and 15% of all Dent disease cases, and their genetic cause is generally understood. However, the genetic cause of the remaining 25% of Dent disease cases remains unidentified. DATA SOURCES: All relevant peer-reviewed original articles published thus far have been screened out from PubMed and have been referenced.
resultsGenetic testing has been used greatly to identify mutation types of CLCN5 and OCRL gene, and next-generation sequencing also has been used to identify an increasing number of unknown genotypes. Gene therapy may bring new hope to the treatment of Dent disease. The abuse of hormones and immunosuppressive agents for the treatment of Dent disease should be avoided to prevent unnecessary harm to children.
conclusionsThe current research progress in classification, genetic heterogeneity, diagnosis, and treatment of Dent disease reviewed in this paper enables doctors and researchers to better understand Dent disease and provides a basis for improved prevention and treatment.
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