ArticleFrontiers in pediatrics2025
Case Report: Wide spectrum of
Article in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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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
2 citing papers in PubMed.
- Serial Kidney Biopsies Reveal Progressive Pathology in Townes-Brocks Syndrome: A Case Report.Kidney medicine · 2026Article
- Townes-Brocks Syndrome With Consistent Renal Hypodysplasia and Variable Extrarenal Features Across Three Generations of Serbian Family.Balkan journal of medical genetics : BJMG · 2025Article
Corrections and comments
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Authors and funding
6 authors.
Funding
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Abstract
Introduction: Genetic causes of chronic kidney disease present a diverse group. Some of them are associated with extrarenal malformations, especially ear anomalies. Genetic diagnosis is essential to confirm the diagnosis, search for additional potential manifestations, and predict the prognosis. Case presentation: We report a case of a 10-year-old girl with elevated creatinine in whom the presence of auricular appendices led to clinical suspicion of a genetic cause of chronic kidney disease. After investigation, Townes-Brocks syndrome was confirmed with the absence of anorectal and limb abnormalities. Therefore, it can be less apparent and needs to be suspected of. Conclusion: Rare causes of renal diseases can be suspected already after examination. Malformations of the ears are particularly associated with chronic kidney disease, which should be screened for in such cases. Genetic confirmation allows for the establishment of diagnosis and comprehensive management. Summary: Townes-Brocks syndrome highlights the importance of chronic kidney disease suspicion in a child when malformations of the ears are present in a child.
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