RENAL FAILURE IN INFANCY DUE TO OVER‐PRODUCTION OF URATE
- 1 December 1984
- journal article
- case report
- Published by Wiley in Australian and New Zealand Journal of Medicine
- Vol. 14 (6) , 852-854
- https://doi.org/10.1111/j.1445-5994.1984.tb03788.x
Abstract
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.Keywords
This publication has 8 references indexed in Scilit:
- Failure to thrive, hyperuricemia, and renal insufficiency in early infancy secondary to partial hypoxanthine-guanine phosphoribosyl transferase deficiencyThe Journal of Pediatrics, 1984
- Hypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy.Archives of Disease in Childhood, 1983
- A screening test for hyperuricosuriaThe Journal of Pediatrics, 1983
- AN X-LINKED SYNDROME CHARACTERISED BY HYPERURICAEMIA, DEAFNESS, AND NEURODEVELOPMENTAL ABNORMALITIESThe Lancet, 1982
- A distinct human variant of hypoxanthine-guanine phosphoribosyl transferaseThe Journal of Pediatrics, 1978
- Complete Deficiency of Adenine PhosphoribosyltransferaseNew England Journal of Medicine, 1977
- An evaluation of the pathogenesis of the gouty kidneyKidney International, 1975
- Urine uric acid to creatinine ratio—a screening test for inberited disorders of purine metabolism: Phosphoribosyltransferase (PRT) deficiency in X-linked cerebral palsy and in a variant of goutThe Journal of Pediatrics, 1968