摘要
人对疾病的认识需要从不同纬度去分类研究,总结相似,关联与因果。本文以先天性代谢异常(Inborn Error Metabolism,IEM)为研究范围,通过ICD编码、遗传特点、发病年龄、代谢缺陷类型等不同维度去分类研究。发现Orphanet收录的992种先天性代谢罕见病,根据ICD编码分类发现脂类、神经鞘脂类疾病最多占所有先天代谢疾病的12%。先天性代谢罕见疾病主要集中在常染色体遗传和X-连锁遗传两类,且以常染色体遗传为主。50%的先天代谢罕见疾病发病年龄都集中在了0-3岁儿童期。溶酶体贮积症和氨基酸代谢异常包括的疾病种类最多。FDA批准孤儿药针对先天性代谢疾病仅有25种仅占2%。本文全面充分对先天性代谢罕见病的分类现状进行统计,对于研究各个分类下疾病机制相关性提供依据与研究范围。对今后先天性代谢罕见病的管理、治疗及孤儿药的开发等相关研究提供一定的参考作用。
Understanding of disease for People needs to classify to do research from different latitudes, and summarizing similarities, associations and causal relationship. In this paper, Inborn Error Metabolism (IEM) is the research scope. It is classified into different dimensions by ICD coding, genetic characteristics, age of onset, type of metabolic defect, etc. A total of 992 rare diseases of congenital metabolism included in Ophane, According to the ICD code, lipids and sphingolipid diseases were the most common accounted for up to 12% of all congenital metabolic diseases. Rare congenital metabolic diseases mainly focus on autosomal inheritance and X-linked inheritance, and are mainly autosomal inheritance. The age of onset of 50% of congenital diseases is concentrated in children between 0 and 3 years of age. Lysosomal storage disorders and abnormal amino acid metabolism include the largest number of diseases. The FDA has approved only 25 species of congenital metabolic diseases for orphan drugs, accounting for 2% of the rare proportion of congenital metabolism in the database. The article comprehensively summarizes the classification status of congenital metabolic rare diseases, and provides the basis and research scope for studying the correlation of disease mechanisms under various classifications. It provides a reference for the related research, the management,treatment of congenital metabolic rare diseases and the development of orphan drugs.
作者
宋海
谢冰洁
Song Hai;Xie Bingjie(Tangshan people hospital, Tangshan, Hebei, 063001 Beijing JoinnPals institute o f rare diseases, Beijing 100176, PR China)
出处
《生命科学仪器》
2019年第4期55-60,45,共7页
Life Science Instruments
基金
河北省2018年度医学科学研究重点课题计划（No.20181215)
基金号:临床医生诊治罕见病现状调查:河北省医学科学研究重点课题计划,批准编号:20181215
关键词
罕见病
先天性代谢异常
代谢障碍
分类
治疗
Rare disease
congenital metabolic abnormalities
metabolic disorders
classification
treatment
