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.
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Acknowledgments
We would like to thank Dr Barry Lewis (Biochemist, Princess Margaret Hospital, Perth, Western Australia) for his assistance with biochemical testing of the family.
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Cherian, S., Crompton, C.H. Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure. Pediatr Nephrol 20, 1811–1813 (2005). https://doi.org/10.1007/s00467-005-2065-8
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DOI: https://doi.org/10.1007/s00467-005-2065-8