Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure

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 calcu...

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Bibliographic Details
Published in:Pediatric nephrology (Berlin, West) West), 2005-12, Vol.20 (12), p.1811-1813
Main Authors: Cherian, Sarah, Crompton, Charles H
Format: Article
Language:English
Subjects:
Acute Kidney Injury - diagnostic imaging
Acute Kidney Injury - enzymology
Acute Kidney Injury - etiology
Acute Kidney Injury - genetics
Acute renal failure
Age of Onset
Allopurinol - administration & dosage
Buffers
Care and treatment
Case studies
Cells, Cultured
Child
Diagnosis
Enzyme Inhibitors - administration & dosage
Erythrocytes - enzymology
Female
Fibroblasts - enzymology
Follow-Up Studies
Genetic Linkage
Greece - ethnology
Heterozygote
Humans
Hyperuricemia - drug therapy
Hyperuricemia - etiology
Hypoxanthine Phosphoribosyltransferase - deficiency
Hypoxanthine Phosphoribosyltransferase - genetics
Male
Metabolic diseases
Pedigree
Skin - cytology
Sodium Bicarbonate - administration & dosage
Time Factors
Treatment Outcome
Ultrasonography
Urinary Calculi - chemistry
Urinary Calculi - etiology
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Description
Summary: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.
ISSN:0931-041X
1432-198X
DOI:10.1007/s00467-005-2065-8