2,8-Dihydroxyadeninuria: laboratory diagnosis and therapy control

Abstract

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.