2,8-dihydroxyadenine Lithiasis
Šebesta I.1, 2, Vondrák K.3, Krijt J.1, Zeman J.1
Ústav dědičných metabolických poruch, 1. lékařská fakulta Univerzity Karlovy a VFN, Praha, Ústav klinické biochemie, 1. lékařská fakulta Univerzity Karlovy a VFN, Praha, 1. dětská klinika, 2. lékařská fakulta Univerzity Karlovy, Praha |
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Summary:
We describe a Czech patient with 2,8-dihydroxyadenine (2,8-DHA) urolithiasis (adenine phosphoribosyltrans-
ferase deficiency, APRT). This inborn error of purine metabolism is inherited in an autosomal recessive manner.
Clinical symptoms are due to the accumulation of the extremely insoluble derivative, 2,8-DHA in the kidney,
which can lead to crystalluria and urinary stones. APRT deficiency may be diagnosed by the identification of
2,8-DHA in the urine and by the absence of APRT activity in erythrocytes. Our case emphasises the importance
of the physician´s awareness of this disorder presenting with urolithiasis.
Key words:
2,8-DHA, urolithiasis.
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