Recurrent Xanthine Stone Formation in a Lesch-Nyhan Patient: A Case Report

Ari Bernstein, Mark C. Liszewski, Beth Drzewiecki

Abstract


Lesch-Nyhan disease is a rare genetic condition that presents as a deficiency in the hypoxanthine-guanine phosphoribosyltransferase (HGPRT) enzyme of the purine nucleotide recycling pathway. Patients with Lesch-Nyhan commonly present with uric acid urolithiasis, but rare cases of xanthine stone formation have been reported. Treatment for these recurrent xanthine stones has proven difficult and there remains no standard protocol for this presentation. Impaired renal function is of critical concern with current treatment practices and outcomes. We report a case of a 3-year-old boy with Lesch-Nyhan disease who presented with recurrent obstructing xanthine stones.




World J Nephrol Urol. 2017;6(3-4):29-31
doi: https://doi.org/10.14740/wjnu311w


Keywords


Lesch-Nyhan; Xanthine; Urolithiasis; HPRT; HGPRT; Stone

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