Safranow K
Katedra i Zakład Biochemii i Chemii Pomorskiej Akademii Medycznej Szczecinie.
Postepy Hig Med Dosw. 1998;52(1):89-104.
The lack of purine salvage enzyme, adenine phosphoribosyltransferase (APRT), is a rare genetic defect that leads to excessive excretion of 2,8-dihydroxyadenine in urine. Due to its low solubility and nephrotoxicity, the defect may result in urolithiasis and renal failure. This review article describes genetic, biochemical and biophysical basis of the disease called dihydroxyadeninuria, as well as clinical problems of diagnosis and treatment.
缺乏嘌呤补救酶腺嘌呤磷酸核糖转移酶（APRT）是一种罕见的遗传缺陷，会导致尿液中2,8 - 二羟基腺嘌呤过度排泄。由于其溶解度低和肾毒性，该缺陷可能导致尿路结石和肾衰竭。这篇综述文章描述了称为二羟基腺嘌呤尿症的疾病的遗传、生化和生物物理基础，以及诊断和治疗的临床问题。
