Journal of Inherited Metabolic Disease

, Volume 33, Supplement 3, pp 21–24 | Cite as

Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient

  • Agnieszka Jurecka
  • Blanka Stiburkova
  • Jakub Krijt
  • Wanda Gradowska
  • Anna Tylki-Szymanska
Research Report



This report describes the clinical, biochemical and molecular data of a 78-year-old patient with xanthine dehydrogenase deficiency presenting as rheumatoid arthritis.


Xanthinuria type I is a rare disorder of purine metabolism caused by xanthine dehydrogenase (XDH) deficiency; fewer than 150 cases have been described in the literature so far.


We describe the clinical history and urine and serum findings of a 78-year-old patient with isolated XDH deficiency presenting as rheumatoid arthritis. The diagnosis was confirmed by mutation analysis.


The patient suffered from arthral symptoms and nephrocalcinosis. Very low concentrations of uric acid were observed in her serum and urine. The allopurinol loading test indicated her xanthinuria to be type I. Analysis of genomic DNA revealed novel heterozygous deletion in exon 8 (g.27073delC, p.214QfsX4) and previously published heterozygous nucleotide missense transition in exon 25 (g.64772-C>T, p.T910M).


Hereditary xanthinuria is a rare disorder, but it also needs to be considered in patients not originating from Mediterranean countries or the Near or Middle East. Urate concentration in serum and urine may provide an initial indication of XDH deficiency before high-performance liquid chromatography (HPLC) analysis is performed. The key to identifying the disorder is a greater awareness of XDH deficiency amongst primary care physicians, nephrologists, and urologists, but also rheumatologists. The diagnosis and therapeutic management requires a multidisciplinary approach.


Uric Acid Xanthine Allopurinol Serum Uric Acid Flavin Adenine Dinucleotide 



gas chromatography–mass spectrometry


high-performance liquid chromatography


uric acid


xanthine dehydrogenase



This study was supported by Research Project from the Ministry of Education, Youth and Sports of the Czech Republic, MSM 0021620806, by grant MZ0VFN2005 from the Ministry of Health of the Czech Republic and grant PB 1121/P01/2007/32 from the Polish Scientific Research Committee.


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Copyright information

© SSIEM and Springer 2010

Authors and Affiliations

  • Agnieszka Jurecka
    • 1
  • Blanka Stiburkova
    • 2
  • Jakub Krijt
    • 2
  • Wanda Gradowska
    • 3
  • Anna Tylki-Szymanska
    • 1
  1. 1.Department of Metabolic Diseases, Endocrinology and DiabetologyThe Children’s Memorial Health InstituteWarsawPoland
  2. 2.Institute for Inherited Metabolic DisordersCharles University, 1st Faculty of MedicinePragueCzech Republic
  3. 3.Department of Biochemistry and Experimental MedicineThe Children’s Memorial Health InstituteWarsawPoland

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