Declaration: Novel SLC3A1 mutation in a cystinuria patient with xanthine stones: a case report.
Declaration: Novel SLC3A1 mutation in a cystinuria patient with xanthine stones: a case report.
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DOI：
10.1186/s12894-023-01300-y
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发表时间：
2023-07-31
期刊：
影响因子：
2
通讯作者：
Chen, Bin
中科院分区：
文献类型：
--
作者：
Bai, Peide;Zhang, WenZhao;Lai, Longhui;Huang, Haichao;Qin, Jiaxuan;Duan, Bo;Wang, Huiqiang;Chen, Yuedong;Jia, Yuanyuan;Xing, Jinchun;Wang, Tao;Chen, Bin
胱氨酸尿症和黄嘌呤尿症都是罕见的涉及泌尿系结石的遗传性疾病。然而，尚未报道同时出现这两种疾病的病例。在这项研究中，我们报告了一例胱氨酸尿症伴黄嘌呤结石和高尿酸血症的病例。 23岁男性患者入院后诊断为肾及输尿管结石、孤立功能肾、高尿酸血症。通过手术取出结石，发现结石由黄嘌呤组成。通过二代测序技术进行基因检测显示，该患者携带SLC3A1基因纯合无义突变c.1113 C> A（p.Tyr371*），判断为功能性致病变异。桑格测序显示，患者的父母携带这种杂合突变，这是一种可导致胱氨酸尿症的致病变异。 24小时尿液代谢分析显示，胱氨酸含量为644毫克（<320毫克/24小时），表明患者存在胱氨酸尿症，与基因检测结果一致。该病例表明胱氨酸尿症和黄嘌呤结石可以同时发生，并提供了两种情况之间可能存在联系的证据。此外，我们的研究结果证明了使用下一代测序进行基因检测的潜在价值，可以有效协助泌尿系结石患者的临床诊断和治疗。
Cystinuria and xanthinuria are both rare genetic diseases involving urinary calculi. However, cases combining these two disorders have not yet been reported. In this study, we report a case of cystinuria with xanthine stones and hyperuricemia. The 23-year-old male patient was diagnosed with kidney and ureteral stones, solitary functioning kidney and hyperuricemia after admission to the hospital. The stones were removed by surgery and found to be composed of xanthine. Genetic testing by next-generation sequencing technology showed that the patient carried the homozygous nonsense mutation c.1113 C> A (p.Tyr371*) in the SLC3A1 gene, which was judged to be a functionally pathogenic variant. Sanger sequencing revealed that the patient’s parents carried this heterozygous mutation, which is a pathogenic variant that can cause cystinuria. The 24-h urine metabolism analysis showed that the cystine content was 644 mg (<320 mg/24 h), indicating that the patient had cystinuria, consistent with the genetic test results. This case shows that cystinuria and xanthine stones can occur simultaneously, and provides evidence of a possible connection between the two conditions. Furthermore, our findings demonstrate the potential value of genetic testing using next-generation sequencing to effectively assist in the clinical diagnosis and treatment of patients with urinary calculi.
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影响因子：
--
作者：
Grover, PK;Marshall, VR;Ryall, RL
通讯作者：
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影响因子：
0.7
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Low, RK
DOI：
10.1097/01.asn.0000029586.17680.e5
发表时间：
2002-10-01
影响因子：
13.6
作者：
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通讯作者：
Rizzoni, G
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