无铜蓝蛋白血症研究进展
Research progress on the study of aceruloplasminemia
许亚运 1方明娟 1王共强1
作者信息
- 1. 安徽中医药大学神经病学研究所附属医院神经内科(合肥 230061)
- 折叠
摘要
无铜蓝蛋白血症(aceruloplasminemia,ACP)是一种罕见的、成人发病的常染色体隐性遗传病,以铜蓝蛋白(ceruloplasmin,CP)缺乏、铁代谢障碍为主要特征,典型临床表现为"神经系统症状、糖尿病、视网膜病"三联征,颅脑MRI显示基底节、丘脑、齿状核、皮质广泛对称的T2加权像低信号,确诊依靠基因检测.治疗以铁螯合剂为主,部分患者神经系统症状改善不理想.临床应提高对ACP的识别,早期诊断及治疗有助于病情恢复.
Abstract
Aceruloplasminemia(ACP)is a rare,adult-onset autosomal recessive disorder characterized by ceruloplasmin(CP)deficiency and iron metabolism disorders,with typical clinical manifestations of the triad of"neurological symptoms,diabetes,and retinopathy".Cranial MRI shows widely symmetrical T2-weighted imaging(T2WI)hypointensity in the basal ganglia,thalamus,dentate nucleus,and cortex.The diagnosis of ACP depends on genetic testing.Iron chelators were the main treatment,and some patients had unsatisfactory improvement in neurological symptoms.Clinicians should improve the recognition of ACP.Early diagnosis and treatment are helpful for the recovery of the disease.
关键词
无铜蓝蛋白血症/遗传性铜蓝蛋白缺乏症/铁代谢障碍/血浆铜蓝蛋白/糖尿病/视网膜病/贫血/铁螯合剂Key words
Aceruloplasminemia/Hereditary ceruloplasmin deficiency/Iron metabolism disorders/Ceruloplas-min/Diabetes mellitus/Retinopathy/Anemia/Iron chelating agents引用本文复制引用
基金项目
安徽省高等学校科研基金项目(2023AH050793)
出版年
2024
NETL
NSTL
万方数据