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Adenine Phosphoribosyltransferase Deficiency: An Underdiagnosed Cause of Lithiasis and Renal Failure

  • Giuseppina MarraEmail author
  • Paolo Gilles Vercelloni
  • Alberto Edefonti
  • Gianantonio Manzoni
  • Maria Angela Pavesi
  • Giovanni Battista Fogazzi
  • Giuseppe Garigali
  • Lionel Mockel
  • Irene Ceballos Picot
Case Report
Part of the JIMD Reports book series (JIMD, volume 5)

Abstract

We describe an infant affected by adenine phosphoribosyltransferase (APRT) deficiency diagnosed at 18 months of age with a de novo mutation that has not been previously reported. APRT deficiency is a rare defect of uric acid catabolism that leads to the accumulation of 2,8 dihydroxyadenine (2,8-DHA), a highly insoluble substance excreted by the kidneys that may precipitate in urine and form stones. The child suffered from renal colic due to a stone found in the peno-scrotal junction of the bulbar urethra. Stone spectrophotometric analysis allowed us to diagnose the disease and start kidney-saving therapy in order to avoid irreversible chronic kidney damage. APRT deficiency should always be considered in the differential diagnosis of pediatric urolithiasis.

Keywords

Primary Hyperoxaluria Twin Sister Placenta Praevia Bulbar Urethra Urinary Tract Dilatation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgements

We thank Véronique Droin for her technical assistance in APRT enzymatic activity determination.

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2011

Authors and Affiliations

  • Giuseppina Marra
    • 1
    Email author
  • Paolo Gilles Vercelloni
    • 1
  • Alberto Edefonti
    • 1
  • Gianantonio Manzoni
    • 2
  • Maria Angela Pavesi
    • 3
  • Giovanni Battista Fogazzi
    • 4
  • Giuseppe Garigali
    • 4
  • Lionel Mockel
    • 5
  • Irene Ceballos Picot
    • 5
  1. 1.Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, UO Pediatric NephrologyMilanoItaly
  2. 2.Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, UO Pediatric SurgeryMilanoItaly
  3. 3.Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, UO Pediatric RadiologyMilanoItaly
  4. 4.Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, UO NephrologyMilanoItaly
  5. 5.Laboratory of Metabolic BiochemistryNecker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de ParisParisFrance

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