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APRT deficiency: the need for early diagnosis
  1. Aamira Huq1,
  2. Kushma Nand2,
  3. Rajiv Juneja3,
  4. Ingrid Winship4,5
  1. 1Department of Genomic Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia
  2. 2Department of Nephrology, Western Health, Footscray, Australia
  3. 3Department of Nephrology, Flinders Medical Centre, Bedford Park, South Australia, Australia
  4. 4Clinical Genetics, The Royal Melbourne Hospital, Melbourne, Victoria, Australia
  5. 5Department of Medicine, The University of Melbourne, Melbourne, Victoria, Australia
  1. Correspondence to Dr Aamira Huq, aamirah{at}


Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder which leads to accumulation of poorly soluble 2,8-dihydroxyadenine in kidneys resulting in nephrolithiasis as well as chronic kidney disease from crystal nephropathy. This report describes a 55-year-old previously fit man who presented with shortness of breath and the investigative pathway that eventually led to a diagnosis of APRT deficiency. Early diagnosis has aided in timely institution of allopurinol, thereby improving his renal function and possibility of weaning off renal replacement therapy. Genetic testing has enabled early identification of other family members at risk and prevention of renal failure by commencing xanthine oxidoreductase (XOR) inhibitors. The issues surrounding kidney donation by a member of this family are also discussed. This case represents the importance of awareness and recognition of the signs and symptoms of this rare condition, complications of which can be easily prevented by early institution of XOR inhibitor therapy.

  • urinary and genital tract disorders
  • genetic screening / counselling
  • renal intervention
  • renal transplantation
  • chronic renal failure

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  • Contributors AH reviewed the consultand and performed the genetic test for detection of the condition. AH wrote the first draft of the article and prepared the figures. KN was the nephrologist who first suspected the condition in the patient and reviewed the manuscript and provided investigation results. RJ was the nephrologist who took over care for the patient for transplant-related monitoring and provided input into transplant-related management issues in this manuscript. IW was the supervising consultant for AH and oversaw the entire process and the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.