Prevalence Study And Analysis Of The Rare Disease Epidemiology In Shandong Province

Background: As the world’s most populous country, China has the world’s largest number ofrare disease groups in terms of prevalence. China is also actively promoting regulation of rarediseases, but these diseases have not been covered by the national health system, so Chinasuffers from the absence of reliable epidemiological data for a long time. It is the most difficultto develop policies and scientific research for lacking of accepted definition and the officialdirectory of rare diseases.Accompanied by the national health lever improving continued to improve, geneticdiseases have become a major threat to health or life of newborns, children, adolescents andyoung people, As well as threats in the elderly by the combined effect of genetic andenvironmental causes of serious diseases. However, there were many of rare disease amongthese diseases. Epidemiological studies have a profound meaning for rare diseases preventionand health promotion by studying the population distribution and the impact of disease andhealth factors.Aimes: The aimes of this study was to study and analysis the rare diseases’ date of inpatients inShandong province so that we can find the method to select data, anaylis data, estimate theprevalence of rare diseases in Shandong and provide data support for Chinese rare diseaseresearch, describe the three-dimension distribution and others epidemiological characteristicsof rare diseases. Understanding the burden of disease and provide the basis for appropriatehealth policy.Methods: We select data of medical record by searching case retrieval system or databasesystem coming from36tertiary hospitals in17cities of Shandong Province and restrictedadmission date between2003and2013. We export some of information in the inpatient Home, such as medical record number, sex, date of birth, admission date, discharge date, dischargediagnosis and ICD-10coding, secondary diagnosis and ICD-10coding (choose the former fivesecondary diagnoses). We access to relevant data by retrieving ICD-10codes from somehospitals that unwilling to provide the full data of hospital.Use SQL Server2008to create the database, taking diseases Chinese name and theEnglish name as the keywords and writing detect statements singled out database-relatedinformation of rare diseases. Then take advantage of the underlying data from HealthStatistics Year book of Shandong Province and by the need coefficients to find the number ofrepresentative population of the survey.To estimate the prevalence of ten rare diseases that has a comprehensive data base. Thencompare the results in literature to determine whether the method is feasible. Then calculatethe burden of disease by useing the results.Descriptive statistical analysis in the form of frequency distribution analysis was used anddata were summarized to describe of distributions by people, time, and place to find thecharacteristics of the three-dimension distribution.Resluts: According to the Chinese and English names of4299kinds of rare diseases inEuropean Union rare diseases, we have found a total of153,799cases which including933rarediseases from6,771,432inpatients in Shandong Province. The diseases covered a total of18diseases disease from D to Z which had been mentioned in the ICD-10code. There are389kinds of congenital malformation, deformation and chromosome abnormality diseases. Thenumber of patients with these diseases reached55,516which is accounted for8.2‰inhospitalized patients and36.1%in rare disease patients We performed a pooled analysis ofdisease cases and found that the number of cases not more than10cases accounted for55.20%while the number of cases not more than100cases accounted for83.60%; at the same time, thenumber of cases more than1000cases only accounted for3.75%and only2kinds of disease aregreater than10000.10kinds diseases with large patients are Guillain-Barre syndrome, Mole[hydatidiform], Evans syndrome, Cleft lip, Cleft palate, Trigeminal neuralgia, Spinal cordinjury, Pre-eclampsia, Congenital patent foramen ovale, Anal fistula.The Poisson regression model combining DisMod II disease burden model were inferredthe prevalence of cleft lip, cleft palate, spina bifida, renal dysplasia, down syndrome, Syndactyly, Polysyndactyly, Microtia, Isolated anorectal malformation, Isolatedanencephaly/exencephaly and their prevalence were78.66/10million, or94.33/10million and20.36/10million, or6.06/10million and49.35/10million and44.85/10million19.89/10million、60.22/10million、13.66/10million、14.86/10million、3.18/10million and cleft lip,cleft palate, spina bifida, renal dysplasia, down syndrome and their disease burden were0.1419DALYs/thousand,0.1678DALYs/thousand,0.0152DALYs/thousand,0.0443DALYs/thousand, and0.0885DALYs/thousand. Their YLDs were higher than YLLs.The ratio of rare disease patients in hospitalized patients in Jinan is8.72%while the ratioin Jining is5.61%and Taian is2.53%. They ranked the top three in Shandong. The ratio is1.87%in coastal areas and2.45%in inland. Female accounted for52%which is higher thanmale.0-4years of age account for20.73%in the disease, age structure which is the largestproportion? The amount of detected rare disease showed an increasing trend as timeincreases.Hospital corrected prevalence around the city; hospital prevalence and correctedprevalence around the city have no aggregation of the correction in the global space. Theprevalence of hospitalization around the city has spatial autocorrelation and aggregation, whichis higher range in Jinan Linyi and Jining, and is lower around them. Higher hospital prevalenceis in the part northeast and southest of Shandong province, and lower is in parts of Yantai,Weifang, Qingdao and Rizhao. Rizhao has the most the lower prevalence.Spatial clustering analysis is scanning two gathering areas, most likely gathering areaincludes nine hospitals, the center is located in the city of Tai’an, with a radius of100.6kilometers, the aggregate number of diseased area is2.6times that of other regions (RR=2.60),the difference was statistically significant. We find a secondary gathering areas in Qingdao,which has one hospital only, and the prevalence is higher in it than in other regions, which is1.31times that of other regions, P <0.001, and has statistically significant differences.Conclusions: This study developed by the EU diseases catalog contains4,299kinds of rarediseases name,1049ICD-10coding in bilingual catalog,then we use the directory softwarewith SQL Sever2008to establish a rare disease data extraction, database creation, dataretrieval and methods of rare diseases research epidemiological data aggregated data setavailable.Finally this method is applied to epidemiological studies of rare diseases inShandong Province, found933kinds of rare diseases,153,799cases of sick persons. There are387kinds of congenital malformation, deformation and chromosome abnormality diseases.The number of patients with these diseases reached55,516which is accounted for8.2‰inhospitalized patients and36.1%in rare disease patients.10kinds diseases with large patientsare Guillain-Barre syndrome, Mole [hydatidiform], Evans syndrome, Cleft lip, Cleft palate,Trigeminal neuralgia, Spinal cord injury, Pre-eclampsia, Congenital patent foramen ovale, Analfistula.In this study, the Poisson regression model combining DisMod II disease burden modelwere inferred the unknown variables known variables and the whole age data by annualsegment data, then got the prevalence of ten rare congenital diseases. Using this method todeduce the the prevalence rates are78.66/10million, or94.33/10million and20.36/10million,or6.06/10million and49.35/10million and44.85/10million19.89/10million、60.22/10million、13.66/10million、14.86/10million、3.18/10million. The estimated prevalence is2,841,371.Use descriptive statistical analysis to understand the types and quantities of rare diseasesin hospitalized patients. By the time analysis, spatial analysis methods described rare diseasesin Shandong Province in three distribution characteristics (time, space, among the crowd),complementing the blank epidemiological studies of rare diseases in Shandong Province. Theratio of rare disease patients in hospitalized patients in Jinan is8.72%while the ratio in Jiningis5.61%and Taian is2.53%. They ranked the top three in Shandong. The ratio is1.87%incoastal areas and2.33%in inland. Female accounted for53%which is higher than male.0-4years of age account for20.73%in the disease, age structure this is the largest proportion. Theamount of detected rare disease showed an increasing trend as time increases.According traditional method of spatial analysis, spatial level to change the color from thetype and degree of difficulty of the global and local prevalence of rare diseases have apreliminary understanding of the situation and find a high-fat, low-fat and gathering area of rarediseases, for rare diseases for research and policy development with some guidance. Jinan,Jining, Linyi within a certain range of high incidence, Dongying within a low incidence.Finding Tai’an and Qingdao as the center of the two gathering area by simply space scan; andthe gathering area of Tai’an involves9cities, its relative risk was2.6. It played a role in guidingthe etiology and influencing factors of rare diseases, also in the choice of sentinel hospitals. By calculating the disabled life years indicator, finding the disease burden of cleft lip,cleft palate, spina bifida, renal dysplasia, Down syndrome were0.1419DALYs/thousand,0.1678DALYs/thousand,0.0443DALYs/thousand,0.0152DALYs/thousand, and0.0885DALYs/thousand respectively in2011in Shandong. The YLD caused by disability is largerthan the YLL caused by premature death, rare diseases increased burden of disease due todisability is more severe.