Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure |
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Authors: | Sarah Cherian Charles H. Crompton |
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Affiliation: | (1) Renal Department, Princess Margaret Hospital for Children, Roberts Road, Subiaco, Western Australia, 6008 |
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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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Keywords: | Paediatric Nephrolithiasis Hypoxanthine-guanine phosphoribosyltransferase deficiency Kelley-Seegmiller syndrome Acute renal failure |
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