ArticlePediatric nephrology (Berlin, Germany)2012
Adenine phosphoribosyltransferase deficiency in children.
Article in Pediatric nephrology (Berlin, Germany), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Adenine phosphoribosyl transferase deficiency leads to renal allograft dysfunction in kidney transplant recipients: a systematic review.Jornal brasileiro de nefrologiaPooled it
- Comparison of the effect of allopurinol and febuxostat on 2,8-dihydroxyadenine in plasma and urine: a clinical trial.Journal of nephrology · 2025Trial
- Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial.European journal of internal medicine · 2018Trial
- Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadeninuria.Pediatric nephrology (Berlin, Germany) · 2026Review
- Experience with early treatment using febuxostat in a patient with adenine phosphoribosyltransferase deficiency after pediatric kidney transplantation: a case report.CEN case reports · 2026Article
- Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease.International urology and nephrology · 2025Review
- Identification and validation for biomarkers associated with mitochondrial metabolism in chronic obstructive pulmonary disease.Frontiers in medicine · 2025Article
- Article
- The genetics of kidney stone disease and nephrocalcinosis.Nature reviews. Nephrology · 2022Review
- A rare cause of urolithiasis in an infant: Answers.Pediatric nephrology (Berlin, Germany) · 2021Article
- Pediatric nephrolithiasis: a systematic approach from diagnosis to treatment.Journal of nephrology · 2019Review
- Adenine Phosphoribosyltransferase Deficiency Due to Novel Mutation.Kidney international reports · 2019Article
- Long-term renal outcomes of APRT deficiency presenting in childhood.Pediatric nephrology (Berlin, Germany) · 2019Article
- Hyperuricemia in Children and Adolescents: Present Knowledge and Future Directions.Journal of nutrition and metabolism · 2019Review
- APRT deficiency: the need for early diagnosis.BMJ case reports · 2018Article
- Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey.Clinical kidney journal · 2016Article
- Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.Journal of chromatography. B, Analytical technologies in the biomedical and life sciences · 2016Article
- Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency.World journal of pediatrics : WJP · 2016Article
- An unusual cause of pink diapers in an infant: Questions and Answers.Pediatric nephrology (Berlin, Germany) · 2016Article
- Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2016Observational
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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