Pela Ivana, Donati Maria Alice, Procopio Elena, Fiorini Patrizio
Department of Paediatrics, University of Florence, Azienda Meyer, Florence, Italy.
Pediatr Nephrol. 2008 Jan;23(1):155-8. doi: 10.1007/s00467-007-0588-x. Epub 2007 Aug 16.
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.