Purine enzyme defects as a cause of acute renal failure in childhood
Purine enzyme defects as a cause of acute renal failure in childhood
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DOI：
10.1007/bf00850222
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发表时间：
1989-10
影响因子：
3
通讯作者：
H. Simmonds;J. Cameron;T. Barratt;M. Dillon;S. R. Meadow;R. Trompeter
中科院分区：
文献类型：
--
作者：
H. Simmonds;J. Cameron;T. Barratt;M. Dillon;S. R. Meadow;R. Trompeter
急性肾功能衰竭（ARF）未被列为次黄嘌呤鸟嘌呤磷酸核糖基转移酶缺乏症的常见表现形式，尽管在缺陷中总尿酸过量产生。我们发现，当尿酸/肌酐比值正常而非升高时，三分之一的此类患者可能出现ARF，并且可能因血浆尿酸不成比例升高而怀疑存在缺陷。鉴于尿酸与2，8-二羟基腺嘌呤的潜在混淆，这一点很重要，2，8-二羟基腺嘌呤是另一种补救酶疾病腺嘌呤磷酸核糖基转移酶缺乏症中分泌的更不溶性嘌呤。在这种疾病中，ARF的表现是公认的，尿酸/肌酐比值也是正常的，但血浆尿酸盐没有升高。我们在这两种疾病的综合经验强调了早期识别和治疗的重要性，仔细调整剂量的别嘌呤醇，这可能会逆转或推迟肾衰竭。
Acute renal failure (ARF) is not listed as a usual form of presentation in hypoxanthineguanine phosphoribosyltransferase deficiency, despite the gross uric acid overproduction in the defect. We found that a third of such patients may present in ARF when the urinary uric acid/creatinine ratio may be normal, not raised, and the defect may be suspected from the disproportionate increase in plasma uric acid. This is important in view of the potential confusion of uric acid with 2,8-dihydroxyadenine, the even more insoluble purine excreted in the other salvage enzyme disorder, adenine phosphoribosyltransferase deficiency. In that disorder, presentation in ARF is well recognised, the uric acid/creatinine ratio is also normal, but plasma urate is not raised. Our combined experience in these two disorders underlines the importance of early recognition and treatment with carefully adjusted doses of allopurinol, which may reverse or postpone renal failure.