基于Orphanet数据库对我国罕见病神经系统表现分类的研究  

A study on classification of nervous system symptoms of rare diseases in China by adopting method in Orphanet database

作　　者：张爱丽 肖亦爽[2] 李静[1] 李祎[1] 李杨方[2] 李明[2] 李丽君 谭力[2] 张桢[2] 

机构地区：[1]昆明医科大学附属延安医院,昆明650051 [2]昆明医科大学附属儿童医院/云南省儿科疾病研究所,昆明650034

出　　处：《实用医学杂志》2018年第4期600-603,617,共5页The Journal of Practical Medicine

基　　金：云南省卫生科技计划项目(编号:2016NS125);昆明市医疗卫生单位内设研究机构资助项目(编号:2017-SW(研)-02);昆明市卫生科技人才培养项目暨"十百千"工程省内知名专家基金资助项目(编号:2016-sw(省)-30)

摘　　要：目的了解罕见病神经系统的基本发病表现,提高对罕见病神经系统表现的认识,为进一步深入研究提供参考。方法筛选出基于Orphanet分类的罕见神经系统疾病,按照相同的神经系统症状和体征进行分类,分析各类别罕见病的异同。结果从罕见病名录中筛选出57种罕见神经系统疾病,占罕见病名录疾病总数的31.49%。这类罕见神经系统疾病表现出无特异性、复杂交错的异常表现,呈现出周围神经病变、癫痫、神经肌肉病等10个类别的神经系统临床症状和体征。结论罕见病多伴有症状和体征复杂的神经系统障碍,鉴别诊断极具挑战性。可结合Orphanet数据库,认真分析疾病与表现之间的关联性,提高罕见病神经系统临床症状和体征的辨认能力。Objective The intention of this thesis is to present the nervous system symptoms of rare diseases with a view to raising researchers＇ awareness of these symptoms, providing one of bases for other relevant researches in the future. Methods Based on the classification in Orphanet database, rare neurological diseases are picked out and put into different groups. The diseases with the same neurological symptoms and signs are in the same group. Then, differences and similarities of the diseases in the same group are analyzed. Results 57 kinds of rare neurological diseases are sorted out from rare diseases list and account for 31.49% of total diseases in the list. These diseases are characterized by aspecific, complex and interlaced neurological abnormalities. Specifically, the above-mentioned neurological abnormalities include 10 kinds of neurological symptoms and signs like peripheral neuropathy, epilepsy, and neuromuscular diseases. Conclusions Rare diseases, in most cases, are featured with complex neurological abnormalities, which presents great challenges for identification and diagnosis. In view of this fact, it is helpful to analyze the connection between rare diseases and their symptoms by adopting the classification in Orphanet database, which is beneficial for promoting identification on neurological symptoms and signs of rare diseases.

关 键 词：罕见病 Orphanet数据库 神经系统 临床表现 分类 

分 类 号：R747.9[医药卫生—神经病学与精神病学] TP311.13[医药卫生—临床医学]