中风与神经疾病杂志2026，Vol.43Issue(3)：248-253,6.DOI:10.19845/j.cnki.zfysjjbzz.2026.0043
CP基因c.1944C>G新突变致血浆铜蓝蛋白缺乏症的临床、影像与遗传学特征分析并文献复习
Clinical,imaging,and genetic features of aceruloplasminemia caused by a novel c.1944C>G mutation in the ceruloplasmin gene:A case report and literature review
摘要
Abstract
Objective To investigate the clinical features and key diagnostic points of aceruloplasminemia(ACP),as well as the features of a novel pathogenic mutation.Methods A systematic analysis was performed for the clinical data of one patient with a confirmed diagnosis of ACP,and a literature review was performed based on related articles in China and globally.Results Based on the clinical features of this patient and the analysis of the family,it was clarified that the homozygous c.1944C>G(p.Ser648Arg)mutation in the Ceruloplasmin(CP)gene could cause ACP and was reported for the first time worldwide.Conclusion ACP is an extremely rare autosomal recessive disease due to abnormal iron metabo-lism caused by a significant reduction in ceruloplasmin,with the main clinical manifestations of retinopathy,diabetes,ataxia,and cognitive impairment,and genetic testing of the CPgene has a relatively high diagnostic value.关键词
铜蓝蛋白/铁沉积/共济失调/认知障碍Key words
Ceruloplasmin/Iron deposition/Ataxia/Cognitive impairment分类
医药卫生引用本文复制引用
孙权,年娜,梁婧,胡文彬,杨任民..CP基因c.1944C>G新突变致血浆铜蓝蛋白缺乏症的临床、影像与遗传学特征分析并文献复习[J].中风与神经疾病杂志,2026,43(3):248-253,6.基金项目
安徽省高校科学研究重大项目(2024AH040140) （2024AH040140）
