ArticleEuropean journal of pediatrics2012
A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5.
Article in European journal of pediatrics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 30 citations in OpenAlex.
- Tubular proteinuria due to hereditary endocytic receptor disorder of the proximal tubule: Dent disease and chronic benign proteinuria.Pediatric nephrology (Berlin, Germany) · 2025Review
- Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3.Scientific reports · 2023Article
- Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene.BMC nephrology · 2022Article
- Article
- Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians.International journal of molecular sciences · 2021Review
- Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.Human genetics · 2021Review
- A 5-year-old boy with refractory rickets, polyuria, and hypokalemic metabolic alkalosis: Answers.Pediatric nephrology (Berlin, Germany) · 2021Article
- Bartter-Like Syndrome as the Initial Presentation of Dent Disease 1: A Case Report.Frontiers in pediatrics · 2021Article
- Differential diagnosis of perinatal Bartter, Bartter and Gitelman syndromes.Clinical kidney journal · 2021Review
- Review
- Dent disease: A window into calcium and phosphate transport.Journal of cellular and molecular medicine · 2019Review
- Nephrolithiasis secondary to inherited defects in the thick ascending loop of henle and connecting tubules.Urolithiasis · 2019Review
- Genomic medicine for kidney disease.Nature reviews. Nephrology · 2018Review
- Barttin Regulates the Subcellular Localization and Posttranslational Modification of Human ClFrontiers in physiology · 2018Article
- Proteinuria in Dent disease: a review of the literature.Pediatric nephrology (Berlin, Germany) · 2017Review
- Growth hormone therapy for a patient with idiopathic Fanconi syndrome and growth hormone deficiency.CEN case reports · 2017Article
- The expanding phenotypic spectra of kidney diseases: insights from genetic studies.Nature reviews. Nephrology · 2016Review
- A novel CLCN5 mutation in a Chinese boy with Dent's disease.World journal of pediatrics : WJP · 2014Article
- Dent Disease 1 Presented Early with Bartter-Like Syndrome Features and Rickets: A Case Report.Case reports in nephrology and dialysisArticle
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledDent disease is an X-linked tubulopathy mainly caused by inactivating mutations of CLCN5. Features of Bartter syndrome such as hypokalemic metabolic alkalosis are rarely observed in patients with Dent disease. We report a Japanese male patient with Dent disease who also manifested features of Bartter syndrome. At the age of 3 years, he was diagnosed with Dent disease based on low molecular weight proteinuria and hypercalciuria. One year later, he was found to have features of Bartter syndrome, i.e., hypokalemia and metabolic alkalosis, and high levels of plasma renin activity and aldosterone with a normal blood pressure. Despite medical interventions, he developed chronic kidney disease stage 3 at the age of 21 years. To investigate the molecular basis of his disease, CLCN5, KCNJ1, SLC12A1, and CLCkb were analyzed and a novel mutation (Y567X) in CLCN5 was identified.
conclusionHypokalemic metabolic alkalosis is a rare manifestation in Dent disease. It is speculated that Dent patients with features of Bartter syndrome are susceptible to progression to renal failure. To study this hypothesis, additional observations and long-term follow-up of such patients are necessary.
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