棘红细胞增多症  

Acanthocytosis

作　　者：姚晓黎[1] 王倞[1] Yao Xiaoli;Wang Liang(Department of Neurology,the First Affiliated Hospital,Sun Yat-sen University,Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases,National Key Clinical Department and Key Discipline of Neurology,Guangzhou 510080,China)

机构地区：[1]中山大学附属第一医院神经科、广东省重大神经疾病诊治研究重点实验室、国家临床重点专科和国家重点学科,广州510080

出　　处：《中华神经科杂志》2024年第7期783-788,共6页Chinese Journal of Neurology

摘　　要：棘红细胞增多症是一类以血棘红细胞异常增多伴神经系统损害的遗传性疾病,可呈常染色体隐性、显性,X连锁隐性遗传,神经系统症状可表现为舞蹈样动作等运动障碍症状、共济失调、精神症状、认知功能改变、神经肌肉损害等,还可有心脏、眼、胃肠道、代谢等多系统损害表现。该病较为罕见,临床变异较大,容易误诊、漏诊。本文对该病的病因、流行病学、临床表现、辅助检查、诊断及鉴别诊断、治疗与预后等方面进行介绍。Acanthocytosis is a genetic disease with abnormal increase of acanthocytes and neurological injuries,and its patterns of inheritance include autosomal recessive,autosomal dominant,and X-linked recessive inheritance.Neurological symptoms can be represented with movement disorders,such as chorea,ataxia,psychiatric symptoms,cognitive dysfunction,neuromuscular damages,etc.Furthermore,multisystemic involvements,such as heart,eye,gastrointestinal tract,and metabolism,can occur in acanthocytosis.The disease is rare,with variable clinical manifestations and is easy to be misdiagnosed.This article introduces the etiology,epidemiology,clinical manifestations,auxiliary examination,diagnosis and differential diagnosis,treatment and prognosis of the disease.

关 键 词：棘红细胞增多症 病因学 诊断 治疗 

分 类 号：R742[医药卫生—神经病学与精神病学]