ArticleTurkish journal of urology2013
Classical xanthinuria: a rare cause of pediatric urolithiasis.
Article in Turkish journal of urology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 13 citations in OpenAlex.
- Human cardiovascular disease model predicts xanthine oxidase inhibitor cardiovascular risk.PloS one · 2023Trial
- Dynamic control of nucleotide metabolism in physiology and disease.Nature cell biology · 2026Review
- Composition and Biochemical Determinants of Renal Stones: A Comprehensive Analysis of Urinary and Serum Mineral Profiles.Urology research & practice · 2026Article
- Transcriptome analysis of perforated small cocoon from Bombyx mori mutants.Scientific reports · 2026Article
- Xanthinuria in a familial group of Munchkin cats and an unrelated domestic shorthair cat.Journal of feline medicine and surgery · 2024Article
- A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.Human mutation · 2021Article
- An abundant quiescent stem cell population ineLife · 2020Article
- An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the Afro-Asian stone-forming belt.JIMD reports · 2020Article
- Diagnosis and management of non-calcium-containing stones in the pediatric population.International urology and nephrology · 2018Review
- Personalized Intervention in Monogenic Stone Formers.The Journal of urology · 2018Review
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Xanthine dehydrogenase catalyzes the oxidation of hypoxanthine to xanthine and xanthine to uric acid in the final two steps of the purine degradation process. Xanthine oxidase deficiency is an uncommon cause of pediatric urinary stone formation, and classical xanthinuria. A ten-month-old boy presented with a seven-month history of nausea, vomiting, discomfort during urination, gross hematuria and passage of stones. His renal and liver function test results and electrolytes were within normal limits, but serum and urine uric acid levels were undetectable. Ultrasonographic evaluation of the urinary tract revealed the presence of multiple bilateral renal stones. Renal stones were analyzed using an X-ray diffractometer, and were found to be composed of hypoxanthine-xanthine. High fluid intake, alkalinization and a low-purine diet were prescribed, and extracorporeal shock wave lithotripsy was performed. Recurrent renal stone formation was not observed during 18 months of follow-up. This case is reported to highlight the nature of this rare condition.
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