ReviewHuman genetics2021
Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.
Review in Human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
- Dent disease: clinical practice recommendations.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2025Guideline
- Kidney Transcriptome Sequencing Improves Molecular Diagnosis and Reveals Splicing Complexity Across the Alport Spectrum.Kidney international reports · 2026Article
- Genetic Screening of Patients With Inherited Fanconi Syndrome.Kidney international reports · 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
- The kidney in genetic metabolic disorders.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Personalised prevention and management of kidney stones: a narrative review on the importance of integrating environmental, social and genetic factors.Public health reviews · 2026Review
- Clinical features and genetic analysis of nine Chinese children with Dent disease and identification of three novelRenal failure · 2025Article
- Tubular proteinuria due to hereditary endocytic receptor disorder of the proximal tubule: Dent disease and chronic benign proteinuria.Pediatric nephrology (Berlin, Germany) · 2025Review
- Molecular simulations meet personalized medicine: The mechanism of action of CLC-5 antiporter and the origin of Dent's disease.PNAS nexus · 2025Article
- Clinical features and genetic analysis of 15 Chinese children with dent disease.Renal failure · 2024Article
- Renal antiporter ClC-5 regulates collagen I/IV through the β-catenin pathway and lysosomal degradation.Life science alliance · 2024Article
- Dent's Disease: A Cause of Monogenic Kidney Stones and Nephrocalcinosis.Journal of personalized medicine · 2024Article
- Compound heterozygous variants of ANKFY1 in a child with infantile-onset proteinuria and movement disorder.Clinical kidney journal · 2024Article
- The Apical Endocytic-Lysosomal Apparatus in CLCN5 Mutations with Phenotypic-Genotypic Correlations in Three Cases.International journal of molecular sciences · 2024Article
- 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
- Hydration for Adult Patients with Nephrolithiasis: Specificities and Current Recommendations.Nutrients · 2023Review
- Characterization of pre-mRNA Splicing Defects Caused byBiomedicines · 2023Article
- A novel likely pathogenic CLCN5 variant in Dent's disease.BMC nephrology · 2023Article
- Genotype and Phenotype Correlation in Patients With Dent's Disease Type 1-Clearing Muddy Waters.Kidney international reports · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Dent disease is a rare genetic proximal tubulopathy which is under-recognized. Its phenotypic heterogeneity has led to several different classifications of the same disorder, but it is now widely accepted that the triad of symptoms low-molecular-weight proteinuria, hypercalciuria and nephrocalcinosis/nephrolithiasis are pathognomonic of Dent disease. Although mutations on the CLCN5 and OCRL genes are known to cause Dent disease, no such mutations are found in about 25-35% of cases, making diagnosis more challenging. This review outlines current knowledge regarding Dent disease from another perspective. Starting from the history of Dent disease, and reviewing the clinical details of patients with and without a genetic characterization, we discuss the phenotypic and genetic heterogeneity that typifies this disease. We focus particularly on all those confounding clinical signs and symptoms that can lead to a misdiagnosis. We also try to shed light on a concealed aspect of Dent disease. Although it is a proximal tubulopathy, its misdiagnosis may lead to patients undergoing kidney biopsy. In fact, some individuals with Dent disease have high-grade proteinuria, with or without hematuria, as in the clinical setting of glomerulopathy, or chronic kidney disease of uncertain origin. Although glomerular damage is frequently documented in Dent disease patients' biopsies, there is currently no reliable evidence of renal biopsy being of either diagnostic or prognostic value. We review published histopathology reports of tubular and glomerular damage in these patients, and discuss current knowledge regarding the role of CLCN5 and OCRL genes in glomerular function.
Indexed as
Identifiers
What OpenQuestion holds
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.