第七届北京罕见病学术大会暨2019京津冀罕见病学术大会征文（28）

Xinmiao Shi1 Hui Liu2 Siyan Zhan3 Zhaoxia Wang4 Lin Wang5 Chongya Dong6 Yanfang Wang7 Chen Yao6，7 Jie Ding1＊Yan Li8＊

1 Department of Pediatrics， Peking University First Hospital， Beijing， China

2 Medical Informatics Center， Peking University， Beijing， China

3 Department of Epidemiology and Bio-statistics， School of Public Health， Peking University Health Science Centre， Beijing， China

4 Department of Neurology， Peking University First Hospital， Beijing， China

5 Beijing Society of Rare Diseases， Beijing， China

6 Department of Biostatistics， Peking University First Hospital; Beijing， China

7 Peking University Clinical Research Institute， Beijing， China

8 Department of Hospital Administration of Peking University Health Science Centre， Peking University， Beijing， China

Corresponding authors

*Jie Ding， Department of Pediatrics， Peking University First Hospital， Beijing， China， djnc_5855@126.com

*Yan Li， Department of Hospital Administration of Peking University Health Science Centre， Peking University， Beijing， China， liyan8290@163.com

Abstract

Background: Rare diseases， as a public health issue， face many problems to be work out. One of the problems is the lack of data from large-scale study. The main objective of this study is to explore the fundamental data of a list of rare diseases in China based on the database of hospitalization summary reports (HSRs).

Methods: The Target Rare Diseases List (TRDL) 2017 was generated by using expert consensus method and experts were asked to vote for diseases with research priorities. By using ICD-10 codes and key search-words in both English and Chinese of rare diseases， data were obtained from the HSRs of 96 hospitals with a population of over 15 million established in China， covering the year from 2014 to 2015. The information on demographics， hospitalizations and readmissions were extracted and analyzed.

Results: A total number of 281 rare diseases were included in the TRDL 2017. Altogether 106，746 hospitalizations of rare disease were captured from January 1st 2014 to Dec 31st 2015 and accounted for 0.69% of inpatients during the same period. The top 10 most cases of rare diseases were thalassemia， idiopathic pulmonary arterial hypertension， pulmonary Langerhans’ cell histiocytosis， moyamoya disease， motor neuron disease， idiopathic pulmonary fibrosis， systemic sclerosis， hepatolenticular degeneration， coarctation of the aorta， and transposition of great artery. Among the 24 cities in the database， the top five cities with most types of rare diseases were Beijing， Changsha， Guangzhou， Shanghai and Chengdu， with numbers of types were 191， 162， 143， 141 and 133， respectively. The top five cities with most cases of rare diseases were Beijing， Guangzhou， Shanghai， Nanning and Chengdu. The age distribution of rare diseases was 52% for age group of 25~64， and the cases in children was 27% for age group of 0~14. The top ten readmission rate ranged from 35% to 65%.

Conclusions: This study provides a TRDL 2017 and a descriptive analysis of rare diseases in hospitalized population. Our study demonstrates important and fundamental information for government， in order to national policy making， legislation， implementation of registry， and the diagnosis， treatment and prevention of rare diseases for the country.

Keywords: Rare diseases， Hospitalization， Database