Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
A Case of Hereditary Xanthinuria Type 1 Accompanied by Bilateral Renal Calculi
Yutaka FujiwaraYoshikazu KawakamiYoshihiko ShinoharaKimiyoshi Ichida
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JOURNAL OPEN ACCESS

2012 Volume 51 Issue 14 Pages 1879-1884

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Abstract

Hereditary xanthinuria is an extremely rare purine metabolism disorder caused by a genetic abnormality in xanthine dehydrogenase. A new case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi was encountered. We performed an allopurinol loading test and diagnosed classical type 1 xanthinuria. Through genetic diagnosis, we identified a mutation site in the xanthine dehydrogenase gene. Genetic analysis revealed a homozygous deletion of cytosine 2,567 in the xanthine dehydrogenase gene, and as a result, a stop codon was formed at position 928. Renal failure caused by the deposition of xanthine crystals is a known complication because xanthine is poorly soluble in water. With high fluid intake and low purine diet, no significant increase in calculi has been observed in this patient for 2 years.

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© 2012 by The Japanese Society of Internal Medicine
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