Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects.

摘要: Abstract Background Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder of adenine metabolism that results in excessive urinary excretion the poorly soluble 2,8-dihydroxyadenine (DHA), leading to kidney stones and chronic disease. The purpose this study was assess DHA patients with APRT deficiency, heterozygotes healthy controls, using recently developed ultra-performance liquid chromatography - tandem mass spectrometry (UPLC-MS/MS) assay. Methods Patients enrolled Deficiency Registry Biobank Rare Kidney Stone Consortium ( http://www.rarekidneystones.org/ ) who had provided 24-h first-morning void urine samples for measurement were eligible study. Heterozygotes individuals served as controls. Wilcoxon-Mann-Whitney test used compare between groups. Associations examined Spearman's correlation coefficient (rs). Results median (range) 138 (64–292) mg/24 h DHA-to-creatinine (DHA/Cr) ratio 13 (4–37) mg/mmol not receiving xanthine oxidoreductase inhibitor therapy. highly correlated DHA/Cr (rs = 0.84, p  Conclusions High observed while undetectable Our suggest UPLC-MS/MS assay can be diagnosis deficiency.