摘要
目的研究非典型溶血尿毒综合征的相关基因诊断。方法通过分析兰州大学第一医院2019年7月收治的1例非典型溶血尿毒综合征病儿的临床表现、体征及基因检测结果,了解新基因突变及复习补体途径的相关理论文献。结果病儿行全外显子组测序检测发现CFHR3基因的1个变异,关联疾病为非典型溶血尿毒综合征,最终医治无效死亡。结论基因检测在非典型溶血尿毒综合征诊断中起到重要作用。
Objective To study related gene diagnosis of atypical hemolytic urine syndrome.Methods Through the analysis of the clinical manifestations,physical signs and genetic testing results of a child with atypical hemolytic uremia symptoms and signs admitted to Lanzhou University First Hospital in July 2019,we explored new gene mutations and reviewed relevant theoretical literature on complement pathway.Results A mutation of CFHR3 gene was found in the child by whole exome sequencing,and the associated disease was atypical hemolytic urine toxin syndrome.The child eventually succumbed to death.Conclusion Genetic testing plays an im⁃portant role in the diagnosis of atypical hemolytic urine toxin syndrome.
作者
李天
高向莹
万单华
陈虹
LI Tian;GAO XiangYing;WAN DanHua;CHEN Hong(The First Clinical Medical College of Lanzhou University,Lanzhou,Gansu 730000,China;Department of Child Health Care,Lanzhou University First Hospital,Lanzhou,Gansu 730000,China)
出处
《安徽医药》
CAS
2022年第2期402-405,共4页
Anhui Medical and Pharmaceutical Journal
关键词
非典型溶血尿毒综合征
儿童
基因
诊断
Atypical hemolytic uremic syndrome
Children
Genes
Diagnosis
