Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure

Sarah Cherian, Charles H Crompton

Research output: Contribution to journalArticlepeer-review

15 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1811-3
Number of pages3
JournalPaediatric Nephrology
Volume20
Issue number12
DOIs
Publication statusPublished - Dec 2005

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