Lesch-Nyhan综合征1例临床资料分析  

Clinical data analysis of one case of Lesch-Nyhan syndrome

作　　者：张倩[1] 张永峰[1] ZHANG Qian;ZHANG Yongfeng(Department of Pediatrics,Affiliated Hospital of Weifang Medical University,Weifang,Shandong 261000,China)

机构地区：[1]潍坊医学院附属医院儿科,山东潍坊261000

出　　处：《中国优生与遗传杂志》2023年第1期137-139,共3页Chinese Journal of Birth Health & Heredity

摘　　要：为探讨HPRT1基因突变引起的Lesch-Nyhan综合征患儿的临床表现、基因表型及治疗进展,对潍坊医学院附属医院诊断的1例Lesch-Nyhan综合征患儿的临床资料进行回顾性分析。该患儿临床上以发育迟缓、肌张力障碍、自伤行为及高尿酸血症为表现,基因检测结果示患儿X染色体HPRT1基因发生1个变异(c.575delCinsTA),导致氨基酸改变p.A192Vfs*3(系移码突4位后蛋白质翻译停止),该变异既往未报道。若患儿以生长发育迟缓、肌张力障碍、自伤行为为主要表现,需考虑该病的可能,及时行血尿酸和基因检测协助诊断。To explore the clinical manifestations,gene phenotype and treatment progress of Lesch-Nyhan syndrome caused by HPRT1 gene mutation,the clinical data of a child with Lesch-Nyhan syndrome diagnosed in Affiliated Hospital of Weifang Medical University were retrospectively analyzed.The clinical manifestations of the child were developmental delay,dystonia,self-injury behavior and hyperuricemia.The genetic test results showed that the child had a mutation in HPRT1 gene of X chromosome(c.575delCinsTA),leading to amino acid change p.A192Vfs*3(protein translation stopped after frameshift 4),which had not been reported previously.If the main manifestations of children are growth retardation,dystonia and self-injury behavior,the possibility of the disease should be considered,and blood uric acid and genetic testing should be timely performed to assist the diagnosis.

关 键 词：Lesch-Nyhan综合征 临床表现 基因分析 治疗进展 

分 类 号：R725.9[医药卫生—儿科]