Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure
- 21 October 2005
- journal article
- case report
- Published by Springer Science and Business Media LLC in Pediatric Nephrology
- Vol. 20 (12), 1811-1813
- https://doi.org/10.1007/s00467-005-2065-8
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.Keywords
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