ArticlePediatric nephrology (Berlin, Germany)2019
Long-term renal outcomes of APRT deficiency presenting in childhood.
Article in Pediatric nephrology (Berlin, Germany), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 20 citations in OpenAlex.
- 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
- Review
- The rise and fall of adenine clusters in the gas phase: a glimpse into crystal growth and nucleation.Analytical and bioanalytical chemistry · 2024Article
- LncR-GAS5 decrease in adenine phosphoribosyltransferase expresssion via binding TAF1 to increase kidney damage created by CIH.Heliyon · 2024Article
- Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases.Molecular genetics and metabolism · 2023Article
- A case of 2,8-DHA crystalline nephropathy caused by adenine phosphoribosyltransferase deficiency: diagnosis and treatment.CEN case reports · 2023Article
- Adenine overload induces ferroptosis in human primary proximal tubular epithelial cells.Cell death & disease · 2022Article
- A rare cause of urolithiasis in an infant: Answers.Pediatric nephrology (Berlin, Germany) · 2021Article
- Cellular and Molecular Mechanisms of Kidney Injury in 2,8-Dihydroxyadenine Nephropathy.Journal of the American Society of Nephrology : JASN · 2020Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundAdenine phosphoribosyltransferase (APRT) deficiency is a hereditary purine metabolism disorder that causes kidney stones and chronic kidney disease (CKD). The purpose of this study was to examine the course of APRT deficiency in patients who presented in childhood.
methodsThe disease course of 21 (35%) patients in the APRT Deficiency Registry of the Rare Kidney Stone Consortium, who presented with manifestations of APRT deficiency and/or were diagnosed with the disorder before the age of 18 years, was studied. The effect of pharmacotherapy on renal manifestations and outcomes was thoroughly assessed.
resultsFourteen children were placed on allopurinol, 100 (25-200) mg/day, at the age of 2.6 (0.6-16.5) years. Six of these patients had experienced kidney stone events and three had developed acute kidney injury (AKI) prior to allopurinol treatment. During 18.9 (1.7-31.5) years of pharmacotherapy, stones occurred in two patients and AKI in three. Six adult patients started allopurinol treatment, 200 (100-300) mg/day, at age 29.8 (20.5-42.4) years. Five of these patients had experienced 28 stone episodes and AKI had occurred in two. Stone recurrence occurred in four patients and AKI in two during 11.2 (4.2-19.6) years of allopurinol therapy. Lack of adherence and insufficient dosing contributed to stone recurrence and AKI during pharmacotherapy. At latest follow-up, estimated glomerular filtration rate (eGFR) was 114 (70-163) and 62 (10-103) mL/min/1.73 m
conclusionTimely diagnosis and treatment of APRT deficiency decreases renal complications and preserves kidney function.
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