Research progress on the study of aceruloplasminemia
10.3969/j.issn.1002-0152.2024.05.009
- VernacularTitle:无铜蓝蛋白血症研究进展
- Author:
Yayun XU
1
;
Mingjuan FANG
;
Gongqiang WANG
Author Information
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)
- Keywords:
Aceruloplasminemia;
Hereditary ceruloplasmin deficiency;
Iron metabolism disorders;
Ceruloplas-min;
Diabetes mellitus;
Retinopathy;
Anemia;
Iron chelating agents
- From:
Chinese Journal of Nervous and Mental Diseases
2024;50(5):300-304
- CountryChina
- Language:Chinese
-
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.
