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OA
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
目的 探讨遗传性铜蓝蛋白缺乏症(ACP)的临床特征、诊断要点,并分析一新致病突变的特征.方法 对一例确诊ACP患者临床资料进行系统性分析,并结合国内外文献复习.结果 综合本例患者临床特点及家系验证,明确Ceruloplasmin(CP)基因c.1944C>G(p.Ser648Arg)纯合突变可导致ACP,为全球范围内首次报道.结论 ACP是一种极为罕见的以铜蓝蛋白显著减少引起铁代谢异常的常染色体隐性遗传疾病,临床以视网膜病变、糖尿病、共济失调及认知障碍为主要表现,CP基因检测更具诊断价值.
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.
孙权;年娜;梁婧;胡文彬;杨任民
安徽中医药大学神经病学研究所附属医院,安徽 合肥 230001安徽中医药大学神经病学研究所附属医院,安徽 合肥 230001安徽省第二人民医院,安徽 合肥 230022安徽中医药大学神经病学研究所附属医院,安徽 合肥 230001安徽中医药大学神经病学研究所附属医院,安徽 合肥 230001
医药卫生
铜蓝蛋白铁沉积共济失调认知障碍
CeruloplasminIron depositionAtaxiaCognitive impairment
《中风与神经疾病杂志》 2026 (3)
248-253,6
安徽省高校科学研究重大项目(2024AH040140)
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