ArticleFrontiers in pediatrics2020
Dent Disease Type 2 as a Cause of Focal Segmental Glomerulosclerosis in a 6-Year-Old Boy: A Case Report.
Article in Frontiers in pediatrics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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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.
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- Renal tubular acidosis: Varied aetiologies and clinical presentations: Three case reports.World journal of nephrology · 2025Article
- Clinical features and genetic analysis of 15 Chinese children with dent disease.Renal failure · 2024Article
- Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Hidradenitis Suppurativa: A Perspective on Genetic Factors Involved in the Disease.Biomedicines · 2022Article
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dent disease is an X-linked recessive renal tubular disorder characterized by proximal tubule dysfunction. Typical features include low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets, and chronic renal failure. We present a case of a 6-year-old boy with nephrotic proteinuria without hypoalbuminemia or edema. His renal biopsy revealed focal segmental glomerulosclerosis (FSGS), some of the glomeruli were globally sclerotic. Hypercalciuria was present intermittently and urine protein electrophoresis showed low molecular weight protein fraction of 50%. The next generation sequencing identified pathogenic variant in
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