A Case of Hereditary Xanthinuria Type 1 Accompanied by Bilateral Renal Calculi
A Case of Hereditary Xanthinuria Type 1 Accompanied by Bilateral Renal Calculi
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DOI：
10.2169/internalmedicine.51.6891
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发表时间：
2012-01-01
影响因子：
1.2
通讯作者：
Ichida, Kimiyoshi
中科院分区：
文献类型：
--
作者：
Fujiwara, Yutaka;Kawakami, Yoshikazu;Ichida, Kimiyoshi
遗传性黄嘌呤尿症是一种极其罕见的嘌呤代谢紊乱，由黄嘌呤脱氢酶基因异常引起。本文报告1例遗传性黄尿1型合并双侧肾结石的新病例。我们进行了别嘌醇负荷试验，诊断为经典型的1型黄尿症。通过基因诊断，我们确定了黄嘌呤脱氢酶基因的一个突变位点。遗传分析显示黄嘌呤脱氢酶基因胞嘧啶2,567纯合缺失，其结果是在928位形成终止密码子。黄嘌呤晶体沉积引起的肾功能衰竭是一种已知的并发症，因为黄嘌呤在水中很难溶解。在高液体摄入量和低嘌呤饮食的情况下，这位患者2年来没有观察到结石的显著增加。
Hereditary xanthinuria is an extremely rare purine metabolism disorder caused by a genetic abnormality in xanthine dehydrogenase. A new case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi was encountered. We performed an allopurinol loading test and diagnosed classical type 1 xanthinuria. Through genetic diagnosis, we identified a mutation site in the xanthine dehydrogenase gene. Genetic analysis revealed a homozygous deletion of cytosine 2,567 in the xanthine dehydrogenase gene, and as a result, a stop codon was formed at position 928. Renal failure caused by the deposition of xanthine crystals is a known complication because xanthine is poorly soluble in water. With high fluid intake and low purine diet, no significant increase in calculi has been observed in this patient for 2 years.