关键词: 罕见病, 数据库建设, 儿童

Abstract:

Since the 13th Five-Year Plan, China has made various arrangements in the field of rare diseases, such as actively promoting the clinical research and introduction of rare disease drugs, improving the effectiveness and accessibility of patient clinical treatment. One important task is to carry out the construction of the rare disease registration system. Most rare disease patients develop symptoms at birth or during childhood, with a concentrated demand for clinical treatment. Therefore, it is of great significance to carry out database construction for such patients. This paper summarizes the necessity and importance of the construction of rare disease database in children, strategy selection and challenges encountered at the present stage, aiming to explore the best practice path for the construction of rare disease database in children in China.

Key words: rare disease, database construction, child