Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn.
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.
Pela
Ivana
I
Department of Paediatrics, University of Florence, Azienda Meyer, Florence, Italy. ivana.pela@unifi.it
Donati
Maria Alice
MA
Procopio
Elena
E
Fiorini
Patrizio
P
D058186:Acute Kidney Injury / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000000981:diagnostic imaging; D007926:Lesch-Nyhan Syndrome / Q000150:complications*; D008297:Male; D014463:Ultrasonography; D014527:Uric Acid / Q000097:blood / Q000652:urine
D014527:Uric Acid
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