青少年高尿酸血症四例病例报道及文献复习  

Hyperuricemia in adolescents:four case series and literature review

作　　者：张晓玲[1] 胡蜀红[1] 余学锋[1] 邵诗颖[1] Zhang Xiaoling;Hu Shuhong;Yu Xuefeng;Shao Shiying(Department of Endocrinology,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Hubei Branch of National Center for Clinical Medical Research of Metabolic Diseases,Wuhan 430030,China)

机构地区：[1]华中科技大学同济医学院附属同济医院内分泌科,国家代谢性疾病临床医学研究中心湖北分中心,武汉430030

出　　处：《中华内分泌代谢杂志》2023年第10期858-864,共7页Chinese Journal of Endocrinology and Metabolism

摘　　要：目的通过对青少年高尿酸血症临床特征进行汇总分析,以提高临床医师对该病的诊治认识。方法选取2015年11月至2021年8月华中科技大学同济医学院附属同济医院内分泌科收治的有明确家族史的青少年高尿酸血症4例,对其临床表现、实验室检查、基因测序以及治疗效果进行分析。结果在4例患者中,尿调节素(UMOD)基因突变2例(c.453C>T,p.C151C纯合突变1例;c.453C>Y,p.C151C杂合突变1例);腺苷三磷酸结合盒转运体G2(ABCG2)基因复合杂合突变1例(c.421C>A p.Q141K;c.34G>A p.V12M);ABCG2基因纯合突变1例(c.421C>A,p.Q141K)。4例患者规律药物治疗及调整生活饮食习惯后血尿酸水平明显下降。结论高尿酸血症在青少年人群中的病因除原发性因素外,一些急慢性疾病、遗传性疾病也不容忽视。存在家族史的患者建议进行基因检测。药物安全性问题在青少年人群的治疗中也应得到重视。Objective To summarize and analyze the clinical characteristics of hyperuricemia in adolescents,and improve the awareness of diagnosis and treatment among clinicians.Methods Four adolescent cases of hyperuricemia with a clear family history were admitted to the Department of Endocrinology,Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology from November 2015 to August 2021.Their clinical manifestations,laboratory tests,gene sequencing,and therapeutic effects were analyzed.Results Among the 4 patients,there were 2 cases with mutation in uromodulin(UMOD)gene(c.453C>T,1 homozygous mutation in p.C151C;c.453C>Y,1 heterozygous mutation in p.C151C);1 case with compound heterozygous mutation in adenosine triphosphate binding cassette transporter G2(ABCG2)gene(c.421C>A p.Q141K;c.34G>A p.V12M);and 1 case with homozygous mutation in the ABCG2 gene(c.421C>A,p.Q141K).The blood uric acid levels of 4 patients decreased significantly after medical treatment and lifestyle interventions.Conclusions In addition to primary etiology,the cause of hyperuricemia in the adolescent can be associated with certain acute and chronic diseases as well as genetic conditions.Genetic testing is recommended for patients with a family history.Medication safety should be stressed in the treatment of adolescents.

关 键 词：青少年 高尿酸血症 尿调节素 腺苷三磷酸结合盒转运体G2 

分 类 号：R589.7[医药卫生—内分泌]