2,8-dihydroxyadenine urolithiasis: report of a case first diagnosed after renal transplant.
2,8-dihydroxyadenine urolithiasis: report of a case first diagnosed after renal transplant.
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DOI：
10.1093/oxfordjournals.qjmed.a068245
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发表时间：
1988-10
期刊：
影响因子：
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通讯作者：
D. Glicklich;Gruber He;A. Matas;V. Tellis;G. Karwa;K. Finley;C. Salem;R. Soberman;Seegmiller Je
中科院分区：
文献类型：
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作者：
D. Glicklich;Gruber He;A. Matas;V. Tellis;G. Karwa;K. Finley;C. Salem;R. Soberman;Seegmiller Je
We report a case of homozygous adenine phosphoribosyl transferase (APRT) deficiency associated with 2,8-dihydroxyadenine stones recurrent in a patient with a renal transplant. The disease was diagnosed 23 years after the initial episode of renal colic. At that time the disease was unknown. Our patient is only the second case of this disorder reported from the United States. Correct diagnosis is important because long-term maintenance with allopurinol and a low purine diet can effectively prevent stone formation and renal failure.
