两例 " 低尿酸血症 " 患者的临床和基因分析
摘要
资料，并对相关文献进行了复习。通过液相色谱串联质谱（LC-MS）检测血清嘌呤代谢产物，我们发现患者黄嘌呤水平升
高，而尿酸水平极低。全外显子测序结果显示，患者 1 存在 XDH 基因 c.2567del (p.Thr856Lysfs*73) 和 c.2969+2T>G 的杂合
突变，患者 2 则有 XDH 基因 c.2197+1G>A 和 c.446G>A (p.Arg149His) 的杂合突变。根据病例资料及基因检测结果，确诊
这两例患者为黄嘌呤尿症Ⅰ型。通过这两例患者的诊治过程和文献复习，我们对嘌呤代谢有了更深入的理解。
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