0Xanthinuria is a rare autosomal recessive disorder associated with a deficiency
of xanthine oxidoreductase (XOR), which normally catalyzes the
conversion of hypoxanthine to uric acid. The effects of this deficit are an
elevated concentration of hypoxanthine and xanthine in the blood and
urine, hypouricemia, and hypouricuria. The deficit in XOR can be isolated
(type I xanthinuria) or associated with a deficit in aldehyde oxidase (type II
xanthinuria) and sulfite oxidase (type III xanthinuria). While the first two variants
have a benign course, are often asymptomatic (20%), and clinically
indistinguishable, type III xanthinuria is a harmful form that leads to infant
death due to neurological damage. The clinical symptoms (kidney stones,
CKD, muscle and joint pain, peptic ulcer) are the result of the accumulation
of xanthine, which is highly insoluble, in the body fluids.
We describe a case of type I xanthinuria in a 52-year-old woman who
presented with hypouricemia, hypouricuria and kidney stones.
0
0
0
0
0
0
0
0
0
0
0
