Modern diagnostic approach to hereditary xanthinuria

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• 作者：Martin Mraz (1)
  Olha Hurba (2)
  Josef Bartl (2)
  Zdenek Dolezel (3)
  Anthony Marinaki (4)
  Lynette Fairbanks (4)
  Blanka Stiburkova (2) (5)
  
  1. Department of Nephrology ; Birmingham Children鈥檚 Hospital NHS Foundation Trust ; Birmingham ; UK
  2. First Faculty of Medicine ; Institute of Inherited Metabolic Disorders ; Charles University in Prague and General University Hospital ; Prague ; Czech Republic
  3. Department of Paediatrics ; University Hospital Brno ; Medical Faculty of Masaryk University ; Brno ; Czech Republic
  4. Purine Research Laboratory ; GSTS Pathology ; Guy鈥檚 and St Thomas鈥?Hospital NHS Foundation Trust ; London ; UK
  5. Institute of Rheumatology ; Na Slupi 4 ; 128 50 ; Prague 2 ; Czech Republic
  
• 关键词：Hereditary xanthinuria ; Allopurinol loading test ; Intestinal biopsy ; Liver biopsy ; Urinary metabolomics ; Molecular genetics
• 刊名：Urological Research
• 出版年：2015
• 出版时间：February 2015
• 年：2015
• 卷：43
• 期：1
• 页码：61-67
• 全文大小：360 KB
• 参考文献：1. Simmonds HA (2003) Hereditary xanthinuria. Orphanet Encyclopedia. http://www.orpha.net/data/patho/GB/uk-XDH.pdf
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  4. Ichida K, Amaya Y, Kamatani N, Nishino T, Hosoya T, Sakai O (1997) Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. J Clin Invest 99:2391鈥?397 CrossRef
  5. Minoshima S, Wang Y, Ichida K, Nishino T, Shimizu N (1995) Mapping of the gene for human xanthine dehydrogenase (oxidase) (XDH) to band p23 of chromosome 2. Cytogenet Cell Genet 68:52鈥?3 CrossRef
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  7. Yamamoto T, Moriwaki Y, Takahashi S et al (2003) Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II. Metabolism 52:1501鈥?504 CrossRef
  8. Peretz H, Watson DG, Blackburn G et al (2012) Urine metabolomics reveals novel physiologic functions of human aldehyde oxidase and provides biomarkers for typing xanthinuria. Metabolomics 8:951鈥?59 CrossRef
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  16. Stiburkova B, Krijt J, Vyletal P et al (2012) Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I. Clin Chim Acta 413:93鈥?9 CrossRef
  17. Ensembl genome browser 63: homo sapiens鈥攇ene summary鈥攇ene XDH (2011). http://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000158125;r=2:31557187-31637581
  18. Xanthine dehydrogenase/oxidase. Protein Knowledgebase. http://www.uniprot.org/uniprot/P47989
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  20. Jurecka A, Stiburkova B, Krijt J, Gradowska W, Tylki-Szymanska A (2010) Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient. J Inherit Metab Dis 33(suppl 3):S21鈥揝24 CrossRef
  21. Stiburkova B, Sebesta I, Ichida K et al (2013) Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis. Eur J Hum Genet 21:1067鈥?073 CrossRef
  22. Stiburkova B, Ichida K, Sebesta I (2011) Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia. Mol Genet Metab 102:430鈥?35 CrossRef
  23. Ohta T, Sakano T, Igarashi T, Itami N, Ogawa T (2004) Exercise-induced acute renal failure associated with renal hypouricaemia: results of a questionnaire-based survey in Japan. Nephrol Dial Transplant 19:1447鈥?453 CrossRef
  24. Stiburkova B, Taylor J, Marinaki AM, Sebesta I (2012) Acute kidney injury in two children caused by renal hypouricaemia type 2. Pediatr Nephrol 27:1411鈥?415 CrossRef
  25. Martin NE, Garcia Nieto V (2011) Hypouricemia and tubular transport of uric acid. Nefrologia 31:44鈥?0
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Urology and Andrology
  Nephrology
  Medical Biochemistry
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1434-0879

文摘

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.