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BMJ Case Reports 2013; doi:10.1136/bcr-2013-201997
  • CASE REPORT

Late diagnosis of Lesch-Nyhan disease variant

  1. John Burke
  1. Department of Medicine, Mater Misericordiae Health Services, South Brisbane, Queensland, Australia
  1. Correspondence to Dr Brian Percy Doucet, brian.doucet{at}uqconnect.edu.au

Summary

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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