Adenine Phosphoribosyltransferase Deficiency as a Rare Cause of Renal Allograft Dysfunction
Adenine Phosphoribosyltransferase Deficiency as a Rare Cause of Renal Allograft Dysfunction
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DOI：
10.1681/asn.2013090960
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发表时间：
2014-04-01
影响因子：
13.6
通讯作者：
Makela, Satu
中科院分区：
文献类型：
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作者：
Kaartinen, Kati;Hemmila, Ulla;Makela, Satu
腺嘌呤磷酸核糖基转移酶缺乏症是一种罕见的常染色体隐性遗传疾病，表现为尿石症或结晶性肾病。它导致产生大量难溶的2，8-二羟基腺嘌呤，排泄到尿液中，导致肾损伤，在一些患者中，肾衰竭。早期识别疾病，黄嘌呤类似物治疗以阻断2，8-二羟基腺嘌呤的形成，高液体摄入和低嘌呤饮食可预防CKD。然而，由于症状的变异性和缺乏意识，诊断有时会非常延迟。我们描述了一个病人与腺嘌呤磷酸核糖转移酶缺乏症谁是诊断过程中评估功能不良的第二个肾移植。本报告强调了未确诊的腺嘌呤磷酸核糖基转移酶缺乏症患者肾移植物丢失的风险，以及改善这种疾病的早期检测的必要性。
Adenine phosphoribosyltransferase deficiency is a rare autosomal recessive disorder manifesting as urolithiasis or crystalline nephropathy. It leads to the generation of large amounts of poorly soluble 2,8-dihydroxyadenine excreted in urine, yielding kidney injury and in some patients, kidney failure. Early recognition of the disease, institution of xanthine analog therapy to block the formation of 2,8-dihydroxyadenine, high fluid intake, and low purine diet prevent CKD. Because of symptom variability and lack of awareness, however, the diagnosis is sometimes extremely deferred. We describe a patient with adenine phosphoribosyltransferase deficiency who was diagnosed during evaluation of a poorly functioning second kidney allograft. This report highlights the risk of renal allograft loss in patients with undiagnosed adenine phosphoribosyltransferase deficiency and the need for improved early detection of this disease.