Renal failure in infancy due to over-production of urate.
This report concerns a three month old infant who was failing to thrive. Renal insufficiency was demonstrated and attributed to aortic coarctation. However, surgical correction of the coarctation failed to correct the renal insufficiency completely and disproportionate hyperuricemia was noted. Excessive urinary excretion of uric acid was found and a moderate deficiency (6% of normal) of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) was demonstrated. When the urate over-production was corrected with allopurinol, renal function returned to normal and the child became well. The importance of over-production of urate and the resultant excessive urinary excretion of uric acid as a treatable cause of acute or persistent renal insufficiency is stressed.
D000493:Allopurinol / Q000627:therapeutic use; D001017:Aortic Coarctation / Q000150:complications; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D007223:Infant; D007676:Kidney Failure, Chronic / Q000150:complications / Q000209:etiology* / Q000378:metabolism; D008297:Male; D014527:Uric Acid / Q000378:metabolism*
D014527:Uric Acid; D000493:Allopurinol; D007041:Hypoxanthine Phosphoribosyltransferase