一例"无尿酸"血症患者的临床和基因分析  

Clinical and genetic analysis of a patient with"no uricemia":A case report and review of literature

作　　者：李圣贤[1] 杨明兰 梁宁宁 尹慧勇 麻静[1] Li Shengxian;Yang Minglan;Liang Ningning;Yin Huiyong;Ma Jing(Department of Endocrinology and Metabolism,Renji Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200127,China;Shanghai Institutes for Biological Sciences,Shanghai Institute of Nutrition and Health,Chinese Academy of Sciences,Shanghai 200031,China)

机构地区：[1]上海交通大学医学院附属仁济医院内分泌科,200127 [2]中国科学院上海生命科学研究所,上海营养与健康研究所,200031

出　　处：《中华内分泌代谢杂志》2024年第4期339-341,共3页Chinese Journal of Endocrinology and Metabolism

摘　　要：黄嘌呤尿(xanthinuria)非常罕见。本文回顾了1例以"无尿酸"为临床表现患者的详细病例资料并复习相关文献。液相色谱串联质谱(LC-MS)检测血清嘌呤代谢产物,发现患者黄嘌呤升高,尿酸水平极低。全外显子测序结果显示患者1号外显子上钼辅因子硫化酶(MOCOS)基因109位点纯合突变(G>T)。根据病例资料及基因检测结果,确诊为黄嘌呤尿Ⅱ型。通过本例患者的诊治和文献复习,加深对嘌呤代谢和尿酸功能的认识。Xanthinuria is extremely rare.This article reports the detailed data of a patient presenting with"no uric acid"clinically and reviews relevant literature.Liquid chromatography coupled with mass spectrometry(LC-MS)detected elevated xanthine levels and extremely low uric acid levels in the patient′s serum.Whole-exome sequencing revealed a homozygous mutation at position 109 of exon 1 of the molybdenum cofactor sulfurase(MOCOS)gene(G>T).Based on the clinical manifestation and genetic testing results,a diagnosis of typeⅡxanthinuria was confirmed.By diagnosing and treating this case along with reviewing the literature,it aims to enhance the understanding of purine metabolism and uric acid function.

关 键 词：黄嘌呤尿Ⅱ型 嘌呤 尿酸 

分 类 号：R589[医药卫生—内分泌]