Long-term renal outcomes of APRT deficiency presenting in childhood.

Background: Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary purine metabolism disorder that causes kidney stones and chronic kidney disease (CKD). The purpose of this study was to examine the course of APRT deficiency in patients who presented in childhood.

Methods: The disease course of 21 (35%) patients in the APRT Deficiency Registry of the Rare Kidney Stone Consortium, who presented with manifestations of APRT deficiency and/or were diagnosed with the disorder before the age of 18 years, was studied.

Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.

Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary disorder that leads to excessive urinary excretion of 2,8-dihydroxyadenine (DHA), causing nephrolithiasis and chronic kidney disease. Treatment with allopurinol or febuxostat reduces DHA production and attenuates the renal manifestations. Assessment of DHA crystalluria by urine microscopy is used for therapeutic monitoring, but lacks sensitivity.

Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.

Background: Adenine phosphoribosyltransferase (APRT) deficiency is a purine metabolism disorder causing kidney stones and chronic kidney disease (CKD). The course of nephrolithiasis and CKD has not been well characterized. The objective of this study was to examine long-term kidney outcomes in patients with APRT deficiency.

Prevalence of hypertension in 9- to 10-year-old Icelandic school children.

The purpose of the study was to investigate blood pressure (BP) distribution, prevalence of hypertension, and correlation between BP and body mass index (BMI) in 9- to 10-year-old Icelandic children. Two manual and two automated BP measurements were performed in 1071 Icelandic children. Children with elevated BP underwent a second BP screening, and a third screening was performed if the BP was elevated at the second visit.