| 李天,高向莹,万单华,等.CFHR3基因异常的非典型溶血尿毒综合征 1例并文献复习[J].安徽医药,2022,26(2):402-405. |
| CFHR3基因异常的非典型溶血尿毒综合征 1例并文献复习 |
| A case of atypical hemolytic uremic syndrome with CFHR3 gene abnormality and literature review |
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| DOI：10.3969/j.issn.1009-6469.2022.02.046 |
| 中文关键词: 非典型溶血尿毒综合征 儿童 基因 诊断 |
| 英文关键词: Atypical hemolytic uremic syndrome Children Genes Diagnosis |
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| 中文摘要: |
| 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。 |
| 英文摘要: |
| Objective To study related gene diagnosis of atypical hemolytic urine syndrome.Methods Through the analysis of theclinical manifestations, physical signs and genetic testing results of a child with atypical hemolytic uremia symptoms and signs admit.ted to Lanzhou University First Hospital in July 2019, we explored new gene mutations and reviewed relevant theoretical literature oncomplement pathway.Results A mutation of CFHR3 gene was found in the child by whole exome sequencing, and the associated dis.ease 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. |
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