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Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn.

作者信息

Pela Ivana, Donati Maria Alice, Procopio Elena, Fiorini Patrizio

机构信息

Department of Paediatrics, University of Florence, Azienda Meyer, Florence, Italy.

出版信息

Pediatr Nephrol. 2008 Jan;23(1):155-8. doi: 10.1007/s00467-007-0588-x. Epub 2007 Aug 16.

Abstract

Acute renal failure developed during the first 3 days after birth in a newborn subsequently diagnosed with hypoxanthine-guanine-phosphoribosyl-transferase (HPRT) deficiency. Fluid infusion and allopurinol therapy normalised renal function and serum uric acid levels. Only a few cases of acute renal failure due to acute hyperuricemic nephropathy related to HPRT deficiency have previously been reported in infants, and there are no reported cases in newborns as young as 3 days old.

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