ArticlePediatric nephrology (Berlin, Germany)2011
Dent's disease: clinical features and molecular basis.
Article in Pediatric nephrology (Berlin, Germany), 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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57 citing papers in PubMed, 96 citations in OpenAlex.
- Clinical characteristics and genetic analyses of Korean children with Dent disease.Pediatric nephrology (Berlin, Germany) · 2026Article
- Reply to Shah, "Limitations in assessing genotype-phenotype correlations in pediatric Dent disease".Pediatric nephrology (Berlin, Germany) · 2026Article
- Prenatal diagnosis of lowe syndrome: identification of a novel pathogenic variation in the OCRL1gene.Molecular biology reports · 2026Article
- 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
- Phenotype and genotype analyses of 21 Chinese patients with Dent disease.Journal of biomedical research · 2025Article
- A narrative review of monogenic disorders causing nephrolithiasis and chronic kidney disease.Nephrology (Carlton, Vic.) · 2024Review
- Clinical features and genetic analysis of 15 Chinese children with dent disease.Renal failure · 2024Article
- Pediatric Dent disease presenting with rickets and end-stage renal disease: case report and literature review.The Journal of international medical research · 2024Review
- 4-Phenylbutyric Acid Treatment Reduces Low-Molecular-Weight Proteinuria in aInternational journal of molecular sciences · 2024Article
- Inherited Fanconi renotubular syndromes: unveiling the intricacies of hypophosphatemic rickets/osteomalacia.Journal of bone and mineral metabolism · 2024Article
- Review of childhood genetic nephrolithiasis and nephrocalcinosis.Frontiers in genetics · 2024Review
- Case Report: Early acute kidney failure in an 11-year-old boy with Dent disease type 1.Frontiers in pediatrics · 2024Article
- Characterization of pre-mRNA Splicing Defects Caused byBiomedicines · 2023Article
- The Site and Type ofKidney international reports · 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
- Dent disease presenting with nyctalopia and electroretinographic correlates of vitamin A deficiency.American journal of ophthalmology case reports · 2023Article
- The genetics of kidney stone disease and nephrocalcinosis.Nature reviews. Nephrology · 2022Review
- A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report.Frontiers in pediatrics · 2022Article
- Atypical presentation of Dent disease in a patient with interstitial Xp11.22 deletion.Journal of nephrology · 2021Article
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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
Dent's disease is an X-linked recessive renal tubulopathy characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure. LMWP is the most constant feature, while the other clinical manifestations show wide variability. Patients also present variable manifestations of proximal tubule dysfunctions, such as aminoaciduria, glucosuria, hyperphosphaturia, kaliuresis, and uricosuria, consistent with renal Fanconi syndrome. Dent's disease affects mainly male children, and female carriers are generally asymptomatic. In two-thirds of patients, the disease is caused by mutations in the CLCN5 gene, which encodes the electrogenic chloride/proton exchanger ClC-5. A few patients have mutations in OCRL1, the gene associated with the oculocerebrorenal syndrome of Lowe, which encodes a phosphatidylinositol-4,5-biphosphate-5-phosphatase (OCRL1). Both ClC-5 and OCRL1 are involved in the endocytic pathway for reabsorption of LMW proteins in the proximal tubule. This review will provide an overview of the important phenotypic characteristics of Dent's disease and summarize the molecular data that have significantly increased our comprehension of the mechanisms causing this disease.
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