Xanthinuria type I: a rare cause of urolithiasis
Xanthinuria type I: a rare cause of urolithiasis
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DOI：
10.1007/s00467-006-0267-3
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发表时间：
2007-02-01
影响因子：
3
通讯作者：
Steinmann, Beat
中科院分区：
文献类型：
--
作者：
Arikyants, Nina;Sarkissian, Ashot;Steinmann, Beat
黄嘌呤尿症I型是一种罕见的嘌呤代谢紊乱引起的黄嘌呤氧化还原酶或脱氢酶（XDH）缺乏症。我们报告了一个家庭与两个受影响的儿童335例儿童结石患者自1991年以来在亚美尼亚研究。先证者是一名13个月大的男孩，表现为腹痛和尿潴留，随后出现结石（0.9x0.6 cm）。埃里温的红外光谱显示是一种纯黄嘌呤结石。父母和兄弟的家庭检查正常，但先证者和他8岁无症状的妹妹有低尿酸血症、低尿酸尿和高次黄嘌呤和黄嘌呤尿排泄。索引患者的超声检查显示双侧结石，需要肾盂切开取石。高液体摄入和嘌呤限制并不能阻止进一步的结石通过。受影响的无症状的妹妹有一个小骨盆结石（4毫米）。突变分析显示XDH基因第25外显子存在一个新的杂合碱基对替换（c.2810C > T），导致氨基酸替换（p.Thr910Met）。第二种突变无法检测到。尽管如此，杂合突变、化学检查结果和别嘌呤醇试验阳性均证明为黄嘌呤尿症1型，可表现出广泛的临床家族内变异。诊断怀疑通常从低血清尿酸。没有具体的治疗方法。
Xanthinuria type I is a rare disorder of purine metabolism caused by xanthine oxidoreductase or dehydrogenase (XDH) deficiency. We report a family with two affected children out of 335 pediatric stone patients studied since 1991 in Armenia. The propositus, a 13-month-old boy, presented with abdominal pain and urinary retention followed by stone passage (0.9x0.6 cm). Infrared spectroscopy in Yerevan revealed a pure xanthine stone. Family examination in the parents and brother was normal, but the propositus and his 8-year-old asymptomatic sister had hypouricemia, hypouricosuria, and high urinary excretion of hypoxanthine and xanthine. Ultrasonography in the index patient showed bilateral stones requiring pyelolithotomy. High fluid intake and purine restriction did not prevent further stone passages. The affected asymptomatic sister had a small pelvic stone (4 mm). Mutation analysis revealed a heterozygous novel base pair substitution in exon 25 of the XDH gene (c.2810C > T), resulting in an amino acid substitution (p.Thr910Met). The second mutation could not be detected. Despite this, the heterozygous mutation, the chemical findings, and the positive allopurinol test altogether prove xanthinuria type 1, which may present wide clinical intrafamilial variation. Diagnosis is suspected usually from low serum uric acid. No specific therapy is available.