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Case Reports
. 2013 Dec 10:2013:bcr2013201997.
doi: 10.1136/bcr-2013-201997.

Late diagnosis of Lesch-Nyhan disease variant

Brian Percy Doucet  1 , Dev Jegatheesan, John Burke
Affiliations
Case Reports

Late diagnosis of Lesch-Nyhan disease variant

Brian Percy Doucet et al. BMJ Case Rep. .

Abstract

A 30-year-old man was referred for investigation and management of hyperuricaemia. History included recurrent nephrolithiasis and chronic gout with poor response to medical management. Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) enzyme activity was investigated and found to be deficient confirming the diagnosis of Lesch-Nyhan disease. Hyperuricaemia was treated with allopurinol. To prevent nephrolithiasis, the patient was instructed to avoid dehydration and aim for a minimum urine output of 2 L/day. Urinary alkalinisation with potassium citrate was started. The patient was referred for genetic counselling. This case discusses the genetics, pathophysiology, clinical manifestations, diagnosis and management of HGPRT deficiency.

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Figures

Figure 1
Figure 1
A gouty tophus is seen over the right olecranon with a psoriatic plaque over the extensor surface.
See this image and copyright information in PMC

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