Abstract
Hereditary xanthinuria (HX) is a rare inherited disorder caused by a deficiency of xanthine dehydrogenase/oxidase (XDH/XO). Missing XDH/XO activity leads to undetectable levels of uric acid excessively replaced by xanthine in serum/urine. The allopurinol loading test has been traditionally used to differentiate between HX types I and II. Final confirmation of HX has been based on the biopsy finding of the absent XDH/XO activity in the small intestine or liver. We present the clinical, biochemical, ultrasound and molecular genetics findings in three new patients with HX and suggest a simple three-step approach to be used for diagnosis, typing and confirmation of HX. In the first step, the diagnosis of HX is determined by extremely low serum/urinary uric acid excessively replaced by xanthine. Second, HX is typed using urinary metabolomics. Finally, the results are confirmed by molecular genetics. We advocate for this safe and non-invasive diagnostic algorithm instead of the traditional allopurinol loading test and intestinal or liver biopsy used in the past.
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Acknowledgments
This study was supported by a grant from the Czech Republic Ministry of Health (RVO VFN64165) and by institutional support from a program at Charles University in Prague (PRVOUK-P24/LF1/3, SVV2014/260022).
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Mraz, M., Hurba, O., Bartl, J. et al. Modern diagnostic approach to hereditary xanthinuria. Urolithiasis 43, 61–67 (2015). https://doi.org/10.1007/s00240-014-0734-4
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DOI: https://doi.org/10.1007/s00240-014-0734-4