Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
Partial Deficiency of Hypoxanthine-Guanine Phosphoribosyltransferase Manifesting as Acute Renal Damage
Miho HIKITATatsuo HOSOYAKimiyoshi ICHIDAHideaki OKABEMasakatsu SAJIIwao OHNOSatoru KURIYAMAHaruo TOMONARIFumihiro HAYASHIKenji ONOUCHIShin FUJIMORINoriko YAMAOKARyozo SAKUMA
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Volume 37 (1998) Issue 11 Pages 945-949

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Abstract

A 32-year-old man who had had frequent gouty arthritis over the past 17 years, was admitted for acute renal failure. Acute renal failure was improved rapidly after medication was resumed and the patient was sufficiently hydrated. 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.
(Internal Medicine 37: 945-949, 1998)

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