M. Hikita et al., Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase manifesting as acute renal damage, INTERN MED, 37(11), 1998, pp. 945-949
A 32-year-old man who had had frequent gouty arthritis over the past 17 yea
rs, was admitted for acute renal failure. Acute renal failure was improved
rapidly after medication was resumed and the patient was sufficiently hydra
ted. The hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity in
the patient had been reduced to about 30 % of the normal control. Therefore
we considered that this patient suffered from a partial deficiency of HPRT
. A point mutation of HPRT gene 68G (guanine) to T (thymine) was detected.
This is a mutation that has not been previously reported. Familial analysis
indicated that his mother and sister were heterozygotes.