ArticlePediatric nephrology (Berlin, Germany)2012
Vitamin A deficiency associated with urinary retinol binding protein wasting in Dent's disease.
Article in Pediatric nephrology (Berlin, Germany), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 2 of them syntheses that pooled it.
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Who cites it
12 citing papers in PubMed, 2 syntheses or guidelines pooled it, 18 citations in OpenAlex.
- Dent disease: clinical practice recommendations.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2025Guideline
- Assessment and management of vitamin status in children with CKD stages 2-5, on dialysis and post-transplantation: clinical practice points from the Pediatric Renal Nutrition Taskforce.Pediatric nephrology (Berlin, Germany) · 2024Guideline
- Vitamin A deficiency presenting with ptosis and optic neuropathy in child with autism spectrum disorder.Documenta ophthalmologica. Advances in ophthalmology · 2025Article
- Inherited Fanconi renotubular syndromes: unveiling the intricacies of hypophosphatemic rickets/osteomalacia.Journal of bone and mineral metabolism · 2024Article
- Dent disease presenting with nyctalopia and electroretinographic correlates of vitamin A deficiency.American journal of ophthalmology case reports · 2023Article
- Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.Human genetics · 2021Review
- Review
- Proteinuria in Dent disease: a review of the literature.Pediatric nephrology (Berlin, Germany) · 2017Review
- Biomarkers of Nutrition for Development (BOND)-Vitamin A Review.The Journal of nutrition · 2016Review
- Recurrent episodes of night blindness in a patient with short bowel syndrome.Documenta ophthalmologica. Advances in ophthalmology · 2015Article
- Chloride transporters and receptor-mediated endocytosis in the renal proximal tubule.The Journal of physiology · 2015Review
- Xerophthalmia and acquired night blindness in a patient with a history of gastrointestinal neoplasia and normal serum vitamin A levels.Documenta ophthalmologica. Advances in ophthalmology · 2013Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThree patients with Dent's disease presented with complaints of impaired night vision or xerophthalmia and were found to have severely decreased serum retinol concentrations. Retinol, bound to its carrier retinol-binding protein (RBP), is filtered at the glomerulus and reabsorbed at the proximal tubule. We hypothesized that urinary loss of retinol-RBP complex is responsible for decreased serum retinol. OBJECTIVE AND
methodsThe study aim was to investigate vitamin A status and RBP in serum and urine of patients with genetically confirmed Dent's disease.
resultsEight patients were studied, three boys had clinical vitamin A deficiency, three had asymptomatic deficiency, and two young men with Dent's disease and impaired renal function had normal retinol values. Serum RBP concentrations were low in patients with vitamin A deficiency and were correlated with vitamin A levels. Urinary RBP concentrations were increased in all patients (2,000-fold), regardless of vitamin A status. This was in contrast to patients with glomerular proteinuria who had only mildly increased urinary RBP with normal serum RBP and vitamin A, and patients with cystinosis with impaired renal function who had massive urinary RBP losses but without a decrease in serum RBP or vitamin A levels. Treatment with vitamin A supplements in patients with retinol deficiency resulted in rapid resolution of ocular symptoms and an increase in serum retinol concentrations.
conclusionsVitamin A deficiency is common in patients with Dent's disease and preserved renal function. We therefore recommend screening these patients for retinol deficiency and treating them before visual symptoms develop.
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