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  • Title: [Type 1 xanthinuria: Report on three cases].
    Author: Diss M, Ranchin B, Broly F, Pottier N, Cochat P.
    Journal: Arch Pediatr; 2015 Dec; 22(12):1288-91. PubMed ID: 26521682.
    Abstract:
    Type 1 xanthinuria is a rare cause of urolithiasis due to xanthine dehydrogenase deficiency. Pediatric cases are exceptional. Through the genetic analysis of two cases, we discovered three mutations responsible for a loss of enzyme activity. The first one had a C.3536T>C missense mutation in the XDH gene and the other one was heterozygous for two mutations c.700+1G>T and c.31778_82delTCAT. We review the diagnostic methods, possible complications, and preventive measures for stone formation.
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