title: Late diagnosis of Lesch-Nyhan disease variant.
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.
authors: Department of Medicine, Mater Misericordiae Health Services, South Brisbane, Queensland, Australia.
authors: Brian Percy
authors: BP
authors: Doucet
authors: Dev
authors: D
authors: Jegatheesan
authors: John
authors: J
authors: Burke
mesh_terms: D000328:Adult; D000493:Allopurinol / Q000627:therapeutic use; D004232:Diuretics / Q000627:therapeutic use; D005817:Genetic Counseling; D006073:Gout / Q000209:etiology; D006074:Gout Suppressants / Q000627:therapeutic use; D006801:Humans; D033461:Hyperuricemia / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D007926:Lesch-Nyhan Syndrome / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology; D008297:Male; D053040:Nephrolithiasis / Q000209:etiology / Q000517:prevention & control; D019357:Potassium Citrate / Q000627:therapeutic use; D014527:Uric Acid / Q000097:blood
chemical_list: D004232:Diuretics; D006074:Gout Suppressants; D014527:Uric Acid; D000493:Allopurinol; D007041:Hypoxanthine Phosphoribosyltransferase; D019357:Potassium Citrate