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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.

Ph 0404834705 SUPPORT AND FINANCIAL DISCLOSURE DECLARATIONCarmel Hawley has no conflicts to declare.Brian Doucet has no conflicts to declare.Nicole Isbel has no conflicts to declare.Karam Kostner has no conflicts to declare.Omar Kaiser has no conflicts to declare.This article is protected by copyright. All rights reserved. AbstractIn this prospective observational cohort study we evaluate the change in cardiovascular risk parameters, with a focus on lipids, in live kidney donors one year post donation. Body mass index (BMI), systolic/diastolic blood pressure, kidney function (51 Cr-EDTA eGFR), and lipid parameters were measured at baseline and one year. Data on 87 live kidney donors was collected. BMI increased from 26.5 ± 2.7 pre to 27.4 ± 3.0 kg/m 2 post donation (p<0.0001).51 Cr-EDTA eGFR decreased from 111.8 ± 20.0 pre to 72.1 ± 13.1 ml/min/1.