Original Article

Pediatric Nephrology

, Volume 27, Issue 4, pp 571-579

Adenine phosphoribosyltransferase deficiency in children

  • Jérôme HarambatAffiliated withService de Pédiatrie, Centre Hospitalier Universitaire de Bordeaux, Centre de référence Maladies Rénales Rares du Sud OuestHôpital Pellegrin-Enfants Email author 
  • , Guillaume BolléeAffiliated withService de Néphrologie, Hôpital Necker-Enfants Malades, Assistance Publique–Hôpitaux de Paris (APHP), Université Descartes, Sorbonne Paris Cité
  • , Michel DaudonAffiliated withLaboratoire de Biochimie A, Hôpital Necker-Enfants Malades, APHP, Université Descartes, Sorbonne Paris Cité
  • , Irène Ceballos-PicotAffiliated withLaboratoire de Biochimie Métabolique, Hôpital Necker-Enfants Malades, APHP, Université Descartes, Sorbonne Paris Cité
  • , Albert BensmanAffiliated withService de Néphrologie Pédiatrique, Hôpital Armand Trousseau, APHP, Université Pierre et Marie Curie
  • , APRT Study Group

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Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder characterized by 2,8-dihydroxyadenine (2,8-DHA) crystalluria that can cause nephrolithiasis and chronic kidney disease. The aim of our study was to assess the clinical presentation, diagnosis, and outcome of APRT deficiency in a large pediatric cohort. All pediatric cases of APRT deficiency confirmed at the same French reference laboratories between 1978 and 2010 were retrospectively reviewed. Twenty-one patients from 18 families were identified. The median age at diagnosis was 3 years. Diagnosis was made after one or more episodes of nephrolithiasis (17 patients), after urinary tract infection (1 patient), and by family screening (3 patients). The diagnosis was based on stone analysis and microscopic examination of urine and/or enzymatic determination of APRT on red blood cells. All children had null APRT enzyme activity in erythrocytes. APRT gene sequencing was performed on 18 patients, revealing six homozygous and 12 compound heterozygous mutations. At diagnosis, half of the patients had decreased kidney function, and two children presented with acute renal failure. Allopurinol treatment was given to all patients at a median dose of 9 mg/kg/day. After a median follow-up of 5 years, all patients showed stabilization or improvement of kidney function, normal growth and development, and six patients had recurrence of nephrolithiasis. Based on these results, we conclude that an excellent outcome can be achieved in children with APRT deficiency who receive the proper treatment.

Key words

APRT deficiency Inborn error of purine metabolism Nephrolithiasis Chronic kidney disease Children