鉴定出导致Ⅰ型黄嘌呤尿症的人类黄嘌呤脱氢酶中的一种新突变。
Identification of a new mutation in the human xanthine dehydrogenase responsible for xanthinuria type I.
作者信息
Collazo Abal Cristina, Romero Santos Susana, González Mao Carmen, Pazos Lago Emilio C, Barros Angueira Francisco, Castiñeiras Ramos Daisy
机构信息
Clinical Analysis Department, University Hospital of Vigo, Vigo, Spain.
Internal Medicine Department, University Hospital of Vigo, Vigo, Spain.
出版信息
Adv Lab Med. 2021 Jul 21;2(4):567-574. doi: 10.1515/almed-2021-0018. eCollection 2021 Nov.
OBJECTIVES
Hereditary xanthinuria is a rare, autosomal and recessive disorder characterized by severe hypouricemia and increased xanthine excretion, caused by a deficiency of xanthine dehydrogenase/oxidase (XDH/XO, EC: 1.17.1.4/1.17.3.2) in type I, or by a deficiency of XDH/XO and aldehyde oxidase (AOX, EC: 1.2.3.1) in type II.
METHODS
We describe a novel point mutation in the gene in homozygosis found in a patient with very low serum and urine levels of uric acid, together with xanthinuria. He was asymptomatic but renal calculi were discovered during imaging.
RESULTS
Additional cases were found in his family and dietary recommendations were made in order to prevent further complications.
CONCLUSIONS
Hereditary xanthinuria is an underdiagnosed pathology, often found in a routine analysis that shows hypouricemia. It is important for Laboratory Medicine to acknowledge how to guide clinicians in the diagnosis.
目的
遗传性黄嘌呤尿症是一种罕见的常染色体隐性疾病，其特征为严重低尿酸血症和黄嘌呤排泄增加，I型是由于黄嘌呤脱氢酶/氧化酶（XDH/XO，EC：1.17.1.4/1.17.3.2）缺乏所致，II型是由于XDH/XO和醛氧化酶（AOX，EC：1.2.3.1）缺乏所致。
方法
我们描述了一名尿酸血清和尿液水平极低且伴有黄嘌呤尿症的患者中发现的纯合子基因中的一种新的点突变。他没有症状，但在影像学检查中发现了肾结石。
结果
在他的家族中发现了其他病例，并给出了饮食建议以预防进一步的并发症。
结论
遗传性黄嘌呤尿症是一种诊断不足的疾病，常在显示低尿酸血症的常规分析中发现。临床检验医学认识如何指导临床医生进行诊断很重要。
Zotero 插件