Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report

Adenine phosphoribosyltransferase (APRT) deficiency (OMIM #614723) is a rare autosomal recessive defect in the purine salvage pathway that causes excessive production of 2,8-dihydroxyadenine, leading to nephrolithiasis and chronic kidney disease (CKD). This case report describes the natural history...

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Veröffentlicht in:	Clinical nephrology 2018-10, Vol.90 (4), p.296-301
Hauptverfasser:	Cochran, Benjamin, Kovačíková, Tereza, Hodaňová, Kateřina, Živná, Martina, Hnízda, Aleš, Niehaus, Angela G, Bonnecaze, Alex, Balasubraminiam, Gowrie, Ceballos-Picot, Irene, Hawfield, Amret, Kidd, Kendrah, Kmoch, Stanislav, Bleyer, Anthony J
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenine Phosphoribosyltransferase - deficiency Age Allopurinol - therapeutic use Antimetabolites - therapeutic use Biopsy Case reports Creatinine Glomerular Filtration Rate Hemodialysis Humans Kidney Calculi - etiology Kidney diseases Laboratories Male Medicine Metabolism, Inborn Errors - complications Microscopy Middle Aged Mutation Nephritis, Interstitial - complications Nephritis, Interstitial - etiology Nephrology Patients Renal Insufficiency, Chronic - etiology Urolithiasis - complications
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