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  Česky / Czech version Klin. Biochem. Metab., 9/30, 2001, No. 3, p. 138-139
 
2,8-dihydroxyadenine Lithiasis 
Šebesta I., Vondrák K., Krijt J., Zeman J.  

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
 


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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