Hypoxanthine urolithiasis in an 11-month-old child: A case report of
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Ahmet Midhat Elmacı 1 * , Fatih Akın
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1 Dr. Faruk Sükan Doğum ve Çocuk Hastanesi, Çocuk Nefroloji Kliniği Selçuklu, Konya, Turkey* Corresponding Author

Abstract

Hereditary xanthinuria is a novel autosomal recessive disorder of purine metabolism resulting from the deficiency of xanthine dehydrogenase. An 11-month-old boy admitted with the complaints of irritability for 6 months, darkening of the urine and spontaneous passage of stone. Both serum and urine levels of uric acid were below normal. Urinary ultrasonography was normal. Stone analysis revealed that it was a hypoxanthine stone. The case is reported because hereditary xanthinuria is a rare cause of childhood urolithiasis.

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Article Type: Case Report

J Clin Exp Invest, Volume 5, Issue 1, March 2014, 128-130

https://doi.org/10.5799/ahinjs.01.2014.01.0377

Publication date: 11 Mar 2014

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