神经元核内包涵体病临床特点及尿细胞沉渣病理检查  

Clinical characteristics and urine cytology in neuronal intranuclear inclusion disease

作　　者：黄招君[1] 万琛宜[1] 王萍[1,2] 黄鹏程 彭云 吁亚庆 朱敏 邓建文[3] 王朝霞 洪道俊[1] HUANG Zhaojun;WAN Chenyi;WANG Ping;HUANG Pengcheng;PENG Yun;YU Yaqing;ZHU Min;DENG Jianwen;WANG Zhaoxia;HONG Dao-jun(Department of Neurology,the First Affiliated Hospital of Nanchang University,Nanchang 330006,China)

机构地区：[1]南昌大学第一附属医院神经内科,南昌3330006 [2]江西省上饶市人民医院康复科 [3]北京大学第一医院神经内科

出　　处：《中国神经精神疾病杂志》2022年第7期405-412,共8页Chinese Journal of Nervous and Mental Diseases

基　　金：国家自然基金(编号:82160252,82271439);江西省卫健委科技计划项目(编号:202110028);江西省双千计划项目(编号:jxsq2019101021)。

摘　　要：目的神经元核内包涵体病(neuronal intranuclear inclusion disease,NIID)是一种具有显著临床异质性的神经退行性疾病。目前该病的确诊主要依赖于基因检查发现NOTCH2NLC基因5′不翻译区的CGG重复扩增,或者皮肤活检发现细胞核内包涵体。本研究拟探讨无创性的尿细胞沉渣病理辅助NIID的价值。方法收集临床及影像学表现疑似NIID的10例住院患者,对患者进行皮肤活检及基因诊断。留取患者晨尿500 mL,离心法得到标本中的有核细胞,分别进行细胞涂片p62蛋白免疫荧光染色和细胞沉渣电镜检查。结果10例患者(男4例,女6例)主要临床症状包括发作性意识障碍、认知功能障碍、震颤、肢体无力等。神经传导速度显示所有患者均存在不同程度的周围神经受累。头颅磁共振显示9例存在皮髓质交界区曲线样DWI高信号。皮肤活检显示所有的患者均存在p62阳性的核内包涵体。基因检查显示CGG重复次数96~158次。3例患者(3/10)的尿细胞涂片中发现有核细胞p62阳性核内包涵体。进一步电镜检查在1例患者中发现尿液中单核细胞的核内出现包涵体。结论该组成年型NIID患者的神经电生理检查显示均存在周围神经病变,提示周围神经病变可能是NIID最常见的症状之一。部分患者尿细胞沉渣中的单核细胞存在核内包涵体,提示尿细胞沉渣病理检查对NIID的诊断可能有一定的辅助作用。Objective Neuronal intranuclear inclusion disease(NIID)is a neurodegenerative disease with significant clinical heterogeneity.At present,the diagnosis of the disease mainly depends on a positive expansion of CGG repeat in the 5′-untranslated region of the NOTCH2NLC gene,or positive intranuclear inclusion in skin biopsy.The purpose of this study is to explore the value of noninvasive pathological findings in urinary cell sediment from NIID patients.Methods Ten patients with suspected NIID were enrolled for skin biopsy and gene screening.Morning urine(500ml)was collected from the patients,and the cell sediment was obtained by centrifugation.P62 immunofluorescence staining and electron microscopic examination were carried out in cell sediment,respectively.Results The main clinical symptoms of 10 patients(male 4,female 6)included episodic disturbance of consciousness,cognitive dysfunction,tremor,limb weakness.Nerve conduction velocity showed different degrees of peripheral nerve involvement in all patients.Cranial MRI showed that linear DWI high signal in the corticomedullary junction in 9 cases.Skin biopsy showed p62 positive intranuclear inclusions in all patients.Genetic examination showed that CGG repeats ranged from 96 to 158.P62 positive intranuclear inclusions were observerd in urine smears of 3 patients(3/10).Electron microscopic examination showed that inclusion appeared in the nuclei of monocytes in the urine of one patient.Conclusion Electrophysiological study indicates that peripheral neuropathy may be one of the most common symptoms of NIID.Urine cytology suggests that pathological examination of urine cells may be helpful in the diagnosis of NIID.

关 键 词：神经元核内包涵体病 皮肤活检 尿液细胞学 NOTCH2NLC 基因 三核苷酸重复序列 病理诊 断 电镜检查 

分 类 号：R741[医药卫生—神经病学与精神病学]