, Volume 27, Issue 4, pp 571-579
Date: 03 Jan 2012

Adenine phosphoribosyltransferase deficiency in children

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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.

Jérôme Harambat and Guillaume Bollée contributed equally to this study.
Irène Ceballos-Picot and Albert Bensman contributed equally to this study.
The members and affiliations of the APRT Study Group are: Thierry Boussemart (Centre Hospitalier du Mans, Service de Pédiatrie, Le Mans, France); Gérard Champion (Centre Hospitalier Universitaire d’Angers, Service de Pédiatrie, Angers, France); Sophie Taque (Centre Hospitalier Universitaire de Rennes, Service de Pédiatrie, Rennes, France); Margarida Almeida (Hospital Universitário de Santa María, Serviço de Pediatria, Lisbon, Portugal); Didier Bernon (Centre Hospitalier de La Rochelle, Service de Néphrologie, La Rochelle, France); Céline Dheu (Centre Hospitalier Universitaire de Strasbourg, Service de Pédiatrie, Strasbourg, France); Susana Ferrando Monleón (Hospital de la Ribera, Servicio de Pediatría, Alzira, Valencia, Spain); Benjamin Horen (Centre Hospitalier de Bigorre, Service de Pédiatrie, Tarbes, France); Arnaud Garnier (Centre Hospitalier Universitaire de Toulouse, Service de Néphrologie Pédiatrique, Toulouse, France); Geneviève Guest (APHP, Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France); Astrid Godron (Centre Hospitalier Universitaire de Bordeaux, Service de Pédiatrie, Bordeaux, France); Bertrand Knebelmann (APHP, Service de Néphrologie, Hôpital Necker-Enfants Malades, Paris, France); Brigitte Llanas (Centre Hospitalier Universitaire de Bordeaux, Service de Pédiatrie, Bordeaux, France); Giuseppina Marra (Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Servizio di Nefrologia Pediatrica, Milan, Italy); Michel Rincé (Centre Hospitalier Universitaire de Limoges, Service de Néphrologie, Limoges, France); Jean-François Subra (Centre Hospitalier Universitaire d’Angers, Service de Néphrologie, Angers, France); François Vrtovsnik (APHP, Service de Néphrologie, Hôpital Bichat, Paris, France)