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Presented at 2015_EU

Development of Quantitative UPLC-MS/MS Method for Clinical Diagnostic of Rare Kidney Stones and Kidney Failure
Finnur Eiriksson
University of Iceland

Adenine phosphoribosyltransferase (APRT) deficiency results in excessive urinary excretion of poorly soluble 2,8-dihydroxyadenine (DHA) causing kidney disease. Treatment with allopurinol and febuxostat prevents the disease in patients with APRT deficiency. Therapeutic drug monitoring is currently performed by urine microscopy but a more sensitive and reliable method is needed. A UPLC-MS/MS method was developed and utilized to measure the concentration of DHA in urine samples from 28 patients, before and after treatment with allopurinol or febuxostat. Significant changes were observed in urinary excretion of DHA after pharmacotherapy was initiated. A decrease in the DHA-to-creatinine ratio was observed with both allopurinol and febuxostat therapy. The developed UPLC-MS/MS assay will greatly facilitate clinical diagnosis and therapeutic drug monitoring in patients with APRT deficiency.

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