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01-12-2005 | Brief Report

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure

Authors: Sarah Cherian, Charles H. Crompton

Published in: Pediatric Nephrology | Issue 12/2005

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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Title: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure
Authors: Sarah Cherian
Charles H. Crompton
Publication date: 01-12-2005
Publisher: Springer-Verlag
Published in: Pediatric Nephrology / Issue 12/2005
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-005-2065-8

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Springer Medicine

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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