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Xanthine urolithiasis in a Cavalier King Charles spaniel

AG Gow, LD Fairbanks, JW Simpson… - Veterinary …, 2011 - veterinaryrecord.bmj.com
... The most common cause of canine xanthinuria is iatrogenic when allopurinol is administered,
inhibiting xanthine dehydrogenase (XDH) (Bartges and Kirk 2008). In human beings, primary
xanthinuria may be caused by enzyme deficiency or a cofactor abnormality. ...
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[HTML] Hypouricemia and tubular transport of uric acid Hipouricemia y manejo renal del ácido úrico

[HTML] from revistanefrologia.comNE Martín… - Nefrología, 2011 - revistanefrologia.com
... The differential diagnosis of hypouricemia is made based on the fractional excretion of uric acid
(Table 1). Hypouricemia with a reduced fractional excretion of uric acid is associated with
xanthinuria, treatment with allopurinol, neoplasms and hepatic function abnormalities. ...
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Comparative analysis of nephrolithiasis in otherwise healthy versus medically complex gastrostomy fed children

PJ Smith, S Basravi, BJ Schlomer, NC Bush… - Journal of Pediatric …, 2011 - Elsevier
... Contributing lithogenic factors in 8/16 (50%) GSF included urinary tract infection (UTI) (5),
lithogenic medications (2), and xanthinuria (1). Conclusions. Stone disease in GSF is multifactorial,
and half of our study group had an identifiable risk factor for nephrolithiasis. ...
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Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia

B Stiburkova, K Ichida… - Molecular Genetics and Metabolism, 2011 - Elsevier
... Xanthinuria is a rare autosomal recessive disorder of purine catabolism. ... We diagnosed four
non-consangiune probands with significantly low concentrations of UA in the serum (0.16 0.28
mg/dl). Neither of the probands with xanthinuria had AKI in their medical history. ...
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Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2

[PDF] from cnrs.frJ Reiss, R Hahnewald - Human Mutation, 2011 - Wiley Online Library
... enzymes. Classical xanthinuria type I is the result of an isolated xanthine
oxidoreductase deficiency [Ichida et al., 1997], while classical xanthinuria type II is
caused by a defect in the molybdenum cofactor sulfuration by HMCS (Fig. ...
Cited by 2 - Related articles - All 4 versions

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