| Background: Rare disease is also called orphan diseases. Cases are rare and scattered. The epidemiologic and clinical features are difficult to grasp which is adverse for researchers to further study the incidence of rare diseases, formulate the clinical pathway and relevant policies. Frontline medical workers are usually confronted with common disease patients, thus they lack the relevant experience to deal with rare cases. European Union, America, Spain and other countries have established rare disease cases registration systems based on the network in order to master the epidemiological characteristics and clinical features of rare diseases. Thus researchers could conduct meticulous and organized management about the data of rare diseases incidence.The definition of a rare disease, orphan drug category, the calculation of disease burden, etc which are applied in China are referenced from the abroad published data. However, China is a country with a large population, vast territory, a large number of nationalities. The incidence and characteristics of rare cases have their own characteristics in China. Meanwhile, studies about rare diseases are time-consuming as cases were scattered in each department. Our country is still in the initial stage in the establishment of a rare disease information system, therefore, it is in urgent need to establish a unified registration system of the rare case.Aimes: The aim of this study was to establish a web-based rare disease clinical resource database. Through consulting the structure characteristics of the rare/common disease case registration system both at home and abroad, we designed the database. In the design process, we also considered the specific situation in the progress of disease diagnosis and treatment. This study mainly aims at 40 kinds of demonstrative rare disease. The research content mainly includes basic demographic information, clinical characteristics, auxiliary examination, prescription therapy, etc. We hope to find the risk factors, summarize the main characteristics of the disease, formulate the clinical path, calculate the disease burden through the analysis of the input information.Methods: This study taken ICD code for rare diseases in the directory which was published by European Union in 2012 as standard, then found the corresponding Chinese name one by one. This study mainly investigates the top three hospitals from Shandong, Zhejiang, Anhui, Henan, Hebei province. We extracted all inpatient medical record data from 2003-2013 then eliminated the patient’s privacy information. We create a database with SQL 2008 software. Through this method, we could count the incidence of each rare disease after the data collation.The list of rare disease research in this subject was mostly based on National “Twelfth Five-Year” Plan for Science & Technology Support. Orphan drug list published by the American and EU were also considered during the progress about the 40 model list of rare diseases in this study. In terms of the contents of the database design, we consulted the systematic framework about some rare disease registration systems of America and EU, meanwhile, we also combined with the specific situation in China. On the basis of consulting a large number of domestic and foreign related literatures, we designed the rare disease data system which adjusted with the path of clinical diagnosis and treatment in China. The main architecture of the system included the basic information of the cases, clinical characteristics, supplementary examinations, treatment path, hospitalization expenses, type of health insurance, etc. By means of registration, users of the system could input information about rare cases. Users could also study the epidemiological and clinical characteristics of the entry information by means of statistical methods.Results: We constructed the rare disease cases registration system combined with the actual situation in our country and foreign case registration system structure. Meanwhile, we used Chinese or English terms about 4299 kinds of rare diseases which have been published by EU as keywords, extracted all inpatient medical record data from 2003-2013 from Shandong, Zhejiang, Anhui, Henan, Hebei province. Based on this data, we worked out the 40 kinds of model of rare disease list involved in this study. After registration, users of the system could log in to the system and submit information online. So far this system has registered 10,000 cases.We have also conducted statistical analysis and summary of features about the input information. Taking BPD as an example, we found that chorioamnionitis, childbearing history, early gestational age, low birth weight, abnormal coagulation function, NRDS, cholestasis, acidosis, PDA were risk factors which could influence the severity of BPD through the analysis of the case registrated in the system. In the study of scleroderma, the ratio of male and female was 1:3.8. The main clinical manifestation was Raynaud’s phenomenon and the first clinical manifestation included chest tightness and arthralgia. Laboratory test results included the serum levels of Ig G, Ig M were high whereas the level of complement C3 was reduced. In addition, antinuclear antibody and anti-Scl-70 antibody were positive. In terms of disease cost, the average cost of hospitalization was 8936.72 yuan and the main way of paying was at their own expense.Conclusions: The establishment and data collection of standard clinical resource database about rare diseases have made up for the blank of our country in this aspect research. This system was convenient to storage clinical data, query data and reuse resources. It is good for information management, clinical work and scientific research. The clinical data which has been inputed in the database was accurate and coherent. The system runs well at present, meanwhile, some functions need further adjustment and improve in the specific use. |
PDF Full Text Request