Hesse A, Miersch W D, Classen A, Thon A, Doppler W
Experimentelle Urologie, Urologische Universitätsklinik, Bonn, BRD.
Urol Int. 1988;43(3):174-8. doi: 10.1159/000281332.
This report is concerned with the experience gained with two 2,8-dihydroxyadenine (2,8-DHA) stone patients. When adenine phosphoribosyltransferase (APRT) deficiency is suspected, the risk of stone formation can be detected at an early stage from the crystalline urinary sediment. Infrared spectroscopic analysis of the crystals or of a urinary stone, if present, will confirm the diagnosis. Determination of the APRT activity will facilitate quantification of the enzyme deficiency and elucidation of the hereditary history. 2,8-DHA excretion in the 24-hour urine and its circadian rhythm were determined at 3-hour intervals using a new method of high performance liquid chromatography determination. This method also provides a means of monitoring the effectiveness of allopurinol therapy.
本报告涉及两名2,8 - 二羟基腺嘌呤（2,8 - DHA）结石患者的经验。当怀疑存在腺嘌呤磷酸核糖转移酶（APRT）缺乏时，可从结晶性尿沉渣中早期检测出结石形成的风险。对晶体或尿结石（如有）进行红外光谱分析将确诊。测定APRT活性将有助于量化酶缺乏情况并阐明遗传病史。采用一种新的高效液相色谱测定法，每隔3小时测定一次24小时尿液中的2,8 - DHA排泄量及其昼夜节律。该方法还提供了一种监测别嘌呤醇治疗效果的手段。
