Abstract
The lack of purine salvage enzyme, adenine phosphoribosyltransferase (APRT), leads to 2,8-dihydroxyadenine stone formation and/or crystalluria because it is insoluble in urine. Urolithiasis composed of 2,8- dihydroxyadenine is not only formed in a complete defect of APRT, but also in a partial deficiency of this enzyme. The defect is inherited as an autosomal recessive trait, the homozygous state is associated with high urinary levels of 2,8-dihydroxyadenine and with crystalluria, calculus formation, and potential nephrotoxicity. Determination of the APRT activity will facilitate quantification of the enzyme deficiency and elucidation of the hereditary history. 2,8-dihydroxyadenine excretion in the 24-hour urine and its circadian rhythm were determined using a new method of high performance liquid chromatography determination. By means of a standard case presentation, we illustrate the analysis of urinary sediments and calculi as well as the scanning electron microscopic images of this kind of stone.
Original language | English (US) |
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Pages (from-to) | 1075-1080 |
Number of pages | 6 |
Journal | Scanning Microscopy |
Volume | 7 |
Issue number | 3 |
State | Published - Sep 1993 |
Externally published | Yes |
Keywords
- 2,8-Dihydroxyadenine
- scanning electron microscopy
- stone analysis
- urinary sediment
ASJC Scopus subject areas
- Instrumentation