Skip to main content
SpringerLink
Log in

Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency

  • Case Report
  • Published:
World Journal of Pediatrics Aims and scope Submit manuscript

Abstract

Background

Adenine phosphoribosyltransferase (APRT) deficiency is an uncommon genetic cause of chronic kidney disease due to crystalline nephropathy.

Methods

A case of a Chinese boy with APRT deficiency presenting with severe acute kidney injury secondary to obstructive uropathy from multiple renal calculi was reviewed.

Results

The patient underwent staged removal of the calculi. Infrared spectrometry of the renal calculi showed 2,8-dihydroxyadenine. APRT deficiency was confirmed with abolished APRT enzyme activity in red blood cells. He was started on allopurinol and low purine diet with complete resolution of the residual calculi.

Conclusion

APRT deficiency should be considered in patients with multiple radiolucent renal calculi.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Cartier P, Hamet M, Hamburger J. A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine. C R Acad Sci Hebd Seances Acad Sci D 1974;279:883–886. [In French]

    CAS  PubMed  Google Scholar 

  2. Kamatani N, Terai C, Kuroshima S, Nishioka K, Mikanagi K. Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies. Hum Genet 1987; 75:163–168.

    Article  CAS  PubMed  Google Scholar 

  3. Bollee G, Dollinger C, Boutaud L, Guillemot D, Bensman A, Harambat J, et al. Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. J Am Soc Nephrol 2010;21:679–688.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Edvardsson V, Palsson R, Olafsson I, Hjaltadottir G, Laxdal T. Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland. Am J Kidney Dis 2001;38:473–480.

    Article  CAS  PubMed  Google Scholar 

  5. Bollee G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I. Adenine phosphoribosyltransferase deficiency. Clin J Am Soc Nephrol 2012;7:1521–1527.

    Article  CAS  PubMed  Google Scholar 

  6. Simmonds H, Van Acker KJ, Sahota AS. 2,8-Dihydroxyadenine urolithiasis. Lancet 1992;339:1295–1296.

    Article  CAS  PubMed  Google Scholar 

  7. Harambat J, Bollee G, Daudon M, Ceballos-Picot I, Bensman A, APRT Study Group. Adenine phosphoribosyltransferase deficiency in children. Pediatr Nephrol 2012;27:571–579.

    Article  PubMed  Google Scholar 

  8. Marra G, Vercelloni PG, Edefonti A, Manzoni G, Pavesi MA, Fogazzi GB, et al. Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure. JIMD Rep 2012;5:45–48.

    Article  PubMed  PubMed Central  Google Scholar 

  9. Sreejith P, Narasimhan KL, Sakhuja V. 2, 8 dihydroxyadenine urolithiasis: a case report and review of literature. Indian J Nephrol 2009;19:34–36.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Nasr SH, Sethi S, Cornell LD, Milliner DS, Boelkins M, Broviac J, et al. Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure. Nephrol Dial Transplant 2010;25:1909–1915.

    Article  CAS  PubMed  Google Scholar 

  11. Cassidy MJ, McCulloch T, Fairbanks LD, Simmonds HA. Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient. Nephrol Dial Transplant 2004;19:736–738.

    Article  PubMed  Google Scholar 

  12. Brown HA. Recurrence of 2,8-dihydroxyadenine tubulointerstitial lesions in a kidney transplant recipient with a primary presentation of chronic renal failure. Nephrol Dial Transplant 1998;13:998–1000.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics (Nephrology Service), KK Women’s and Children’s Hospital, Singapore, Singapore

    Siew Le Chong & Yong Hong Ng

  2. 100 Bukit Timah Road, Singapore, 229899, Singapore

    Yong Hong Ng

Authors
  1. Siew Le Chong
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Yong Hong Ng
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Yong Hong Ng.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Chong, S.L., Ng, Y.H. Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency. World J Pediatr 12, 243–245 (2016). https://doi.org/10.1007/s12519-015-0073-8

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12519-015-0073-8

Keywords

Search

Navigation