2,8-Dihydroxyadenine Nephropathy Identified as Cause of End-Stage Renal Disease After Renal Transplant
2,8-Dihydroxyadenine Nephropathy Identified as Cause of End-Stage Renal Disease After Renal Transplant
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DOI：
10.6002/ect.2015.0096
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发表时间：
2017-10-01
影响因子：
0.9
通讯作者：
Nampoory, M. R. Narayanan
中科院分区：
文献类型：
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作者：
George, Smiley Annie;Al-Rushaidan, Sulaiman;Nampoory, M. R. Narayanan
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尿酸代谢疾病，导致2,8-二羟基腺嘌呤的形成和排泄到尿液中。2,8-二羟基腺嘌呤的低溶解度导致尿晶体和肾结石的沉淀和形成。这种疾病的患者通常有复发性肾结石，并可发展为肾实质结晶沉淀继发肾病。此病常被误诊，并可在肾移植后复发，导致移植物衰竭。缺乏与尿酸结石相同的具体临床表现、化学和放射学特征，以及临床医生缺乏认识，是导致这种可治疗疾病诊断不足的原因之一。别嘌呤醇，一种黄嘌呤脱氢酶抑制剂，是主要的治疗方法，支持高液体摄入和饮食调整。所有儿童尿石症患者、复发性尿石症患者以及与不明原因肾衰竭相关的尿石症患者（包括终末期肾病患者和肾移植患者）均应考虑腺嘌呤磷酸核糖转移酶缺乏的可能性。在这里，我们报告了一例41岁的女性患者，她被诊断为2,8-二羟基腺嘌呤肾病引起的终末期肾脏疾病，这是在肾移植的同时进行了原生肾切除术，并及时进行了干预，以防止移植复发。
Adenine phosphoribosyltransferase deficiency is a rare autosomal recessive disorder of uric acid metabolism that leads to formation and excretion of 2,8-dihydroxyadenine into urine. The low solubility of 2,8-dihydroxyadenine results in precipitation and formation of urinary crystals and renal stones. Patients with this disorder usually have recurrent nephrolithiasis and can develop nephropathy secondary to crystal precipitation in the renal parenchyma. The disease is most often underdiagnosed and can recur in renal transplant, causing graft failure. Lack of specific clinical manifestations, chemical and radiologic features identical to those shown with uric acid stones, and lack of awareness among clinicians are among the causes for the underdiagnoses of this treatable disease. Allopurinol, a xanthine dehydrogenase inhibitor, is the mainstay of treatment, supported by high fluid intake and dietary modifications. The possibility of adenine phosphoribosyl transferase deficiency should be considered in all cases of urolithiasis in children, patients with recurrent urolithiasis, and patients with urolithiasis associated with renal failure of unknown cause, including patients with end-stage renal disease and renal transplant recipients. Here, we report a case of a 41-year-old female patient who had a late diagnosis of 2,8-dihydroxyadenine nephropathy-induced end-stage renal disease, made on the native nephrectomy that accompanied the renal transplant, and who had a timely intervention that prevented recurrence in the graft.