Xu Tao, Xie Xiaobing, Zhang Zhen, Zhao Ningzhi, Deng Yuanfu, Li Ping
Department of Emergency Medicine, First Affiliated Hospital, Hunan University of Chinese Medicine, No. 93 Shaoshan Middle Road, Changsha 410007, China.
Medical Laboratory Center, First Affiliated Hospital, Hunan University of Chinese Medicine, No, 93 Shaoshan Middle Road, Changsha 410007, China.
Clin Chim Acta. 2020 May;504:168-171. doi: 10.1016/j.cca.2020.02.012. Epub 2020 Feb 15.
Xanthinuria is a rare genetic metabolic disorder, the biochemical mechanism of xanthinuria is the disturbance of purine to uric acid metabolism due to the deficiency of xanthine dehydrogenase/xanthine oxidase (XDH/XO) and aldehyde oxidase 1 (AOX1). Xanthinuria has large clinical variability and only about half of all patients have urolithiasis. In this article, we present one xanthinuria case from an unrelated family, which diagnosed by clinical, biochemical and finally confirmed by molecular genetics. One mutation in XDH gene c.2737C > T (p.R913W) and another mutation in SEPT9 gene (c.655C > T (p.R219W)) were identified. To our knowledge, this is the first time that these novel mutations reported in the xanthinuria patients.
黄嘌呤尿症是一种罕见的遗传性代谢紊乱疾病，其生化机制是由于黄嘌呤脱氢酶/黄嘌呤氧化酶（XDH/XO）和醛氧化酶1（AOX1）缺乏导致嘌呤向尿酸代谢紊乱。黄嘌呤尿症具有很大的临床变异性，所有患者中只有约一半患有尿路结石。在本文中，我们报告了一例来自非亲缘家庭的黄嘌呤尿症病例，该病例通过临床、生化检查诊断，并最终通过分子遗传学得到证实。在XDH基因中鉴定出一个c.2737C>T（p.R913W）突变，在SEPT9基因中鉴定出另一个突变（c.655C>T（p.R219W））。据我们所知，这是首次在黄嘌呤尿症患者中报道这些新突变。
