Winter P, Hesse A, Klocke K, Schaefer R M
Urologische Universitätsklinik Bonn, Federal Republic of Germany.
Scanning Microsc. 1993 Sep;7(3):1075-80.
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.
缺乏嘌呤补救酶腺嘌呤磷酸核糖转移酶（APRT）会导致2,8 - 二羟基腺嘌呤结石形成和/或结晶尿，因为它在尿液中不溶。由2,8 - 二羟基腺嘌呤组成的尿石症不仅在APRT完全缺陷时形成，在该酶部分缺乏时也会形成。这种缺陷作为常染色体隐性性状遗传，纯合状态与尿液中高浓度的2,8 - 二羟基腺嘌呤以及结晶尿、结石形成和潜在的肾毒性相关。APRT活性的测定将有助于量化酶缺乏情况并阐明遗传病史。使用一种新的高效液相色谱测定方法来测定24小时尿液中2,8 - 二羟基腺嘌呤的排泄及其昼夜节律。通过一个标准病例展示，我们阐述了尿沉渣和结石的分析以及这类结石的扫描电子显微镜图像。
