title: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure.
abstract: Hyperuricemia and secondary urate nephropathy are uncommon in the paediatric setting outside of tumour lysis syndrome. We describe the case of a 12-year-old boy who presented at 3 years of age with acute renal failure. The cause of this remained unknown until the development of uric acid renal calculi 9 years later. This, and the availability of the previously unknown family history, provided the subsequent diagnosis of partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Detailed family history is important for early detection of this heterogeneous group of disorders. Early treatment may minimise long-term renal morbidity and mortality from renal insufficiency.
authors.affiliation: Renal Department, Princess Margaret Hospital for Children, Subiaco, Western Australia. Charles.Crompton@health.wa.gov.au
authors.forename: Sarah
authors.initials: S
authors.lastname: Cherian
authors.forename: Charles H
authors.initials: CH
authors.lastname: Crompton
mesh_terms: D058186:Acute Kidney Injury / Q000000981:diagnostic imaging / Q000201:enzymology / Q000209:etiology* / Q000235:genetics; D017668:Age of Onset; D000493:Allopurinol / Q000008:administration & dosage; D002021:Buffers; D002478:Cells, Cultured; D002648:Child; D004791:Enzyme Inhibitors / Q000008:administration & dosage; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005500:Follow-Up Studies; D008040:Genetic Linkage; D006115:Greece / Q000208:ethnology; D006579:Heterozygote; D006801:Humans; D033461:Hyperuricemia / Q000188:drug therapy / Q000209:etiology; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D008297:Male; D010375:Pedigree; D012867:Skin / Q000166:cytology; D017693:Sodium Bicarbonate / Q000008:administration & dosage; D013997:Time Factors; D016896:Treatment Outcome; D014463:Ultrasonography; D014545:Urinary Calculi / Q000737:chemistry / Q000209:etiology
chemical_list: D002021:Buffers; D004791:Enzyme Inhibitors; D000493:Allopurinol; D017693:Sodium Bicarbonate; D007041:Hypoxanthine Phosphoribosyltransferase