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Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn
Ivana Pela1, Maria Alice Donati, Elena Procopio
1Department of Paediatrics, University of Florence, Azienda Meyer, Florence, Italy. ivana.pela@unifi.it
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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