CASE REPORT article
Front. Pediatr.
Sec. Pediatric Nephrology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1649707
CASE REPORT: WIDE SPECTRUM OF SALL1 VARIANTS -A RARE CAUSE OF PEDIATRIC CHRONIC KIDNEY DISEASE
Provisionally accepted
- 1Division of Paediatrics, University Clinical Centre Maribor, Maribor, Slovenia
- 2Laboratory of Medical Genetics, University Medical Centre Maribor, Maribor, Slovenia
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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.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.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 when malformations of the ears are present in a child.
Keywords: Chronic Kidney Disease, Child, Genetics, rare variants, Townes-Brocks syndrome
Received: 18 Jun 2025; Accepted: 18 Aug 2025.
Copyright: © 2025 Filipič, Stangler Herodež, Močnik, Golob Jančič and Krgović. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Mirjam Močnik, Division of Paediatrics, University Clinical Centre Maribor, Maribor, Slovenia
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