A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase
A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase
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DOI：
10.1007/s13730-016-0216-3
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发表时间：
2016-11-01
期刊：
影响因子：
1
通讯作者：
Narita, Ichiei
中科院分区：
文献类型：
--
作者：
Iguchi, Akira;Sato, Takaaki;Narita, Ichiei
遗传性低尿酸血症通常由肾性低尿酸血症或黄嘌呤尿症引起，肾性低尿酸血症是一种常染色体隐性疾病，其特征在于肾小管尿酸转运受损，黄嘌呤尿症是一种罕见的常染色体隐性疾病，由黄嘌呤脱氢酶（XDH;黄嘌呤尿症I型）缺乏或XDH和醛氧化酶两者缺乏（黄嘌呤尿症II型）引起。与肾性低尿酸血症（有时会导致运动性急性肾损伤）相反，黄嘌呤尿与这种疾病无关。我们在这里报告一例黄嘌呤尿症I型由于复合杂合突变。一名46岁的妇女被发现有不可检测的血浆和尿液尿酸水平。她没有任何症状，也没有任何EIAKI病史。别嘌呤醇负荷试验后诊断为黄嘌呤尿I型。突变分析显示XDH基因中存在复合杂合突变[c.305A>G（p.Gln102Arg）和c.2567delC（p.Thr856Lysfs*73）]。在这两种突变中，前者是新颖的。患者未出现EIAki。然而，由于黄嘌呤尿症是一种罕见的疾病，有必要确定额外的病例，以确定这种疾病是否并发EIAKI。
Hereditary hypouricemia is generally caused by renal hypouricemia, an autosomal recessive disorder that is characterized by impaired renal tubular uric acid transport, or by xanthinuria, a rare autosomal recessive disorder caused by a deficiency of xanthine dehydrogenase (XDH; xanthinuria type I) or by a deficiency of both XDH and aldehyde oxidase (xanthinuria type II). In contrast to renal hypouricemia, which sometimes leads to exercise-induced acute kidney injury (EIAKI), xanthinuria has not been associated with this disorder. We report here a case of xanthinuria type I due to a compound heterozygous mutation. A 46-year-old woman was found to have undetectable plasma and urinary levels of uric acid. She had no symptoms and no history of EIAKI. Xanthinuria type I was diagnosed following the allopurinol loading test. Mutation analysis revealed a compound heterozygous mutation [c.305A>G (p.Gln102Arg) and c.2567delC (p.Thr856Lysfs*73)] in the XDH gene. Of these two mutations, the former is novel. The patient did not exhibit EIAKI. However, because xanthinuria is a rare disease, the identification of additional cases is necessary to determine whether this disease is complicated with EIAKI.