豫北地区2003-2013年罕见疾病住院患者流行特征分析

Epidemiological characteristics of the hospitalized patients with rare disease in northern Henan Province from 2003 to 2013

目的：分析豫北地区2003-2013年罕见疾病住院患者的流行特征，为进一步研究提供线索；确定高危人群及主要罕见疾病类型，为卫生资源的分配及制定预防措施提供依据。方法按照罕见疾病 ICD -10编码及家庭住址进行筛选，收集豫北地区三级医院2003-2013年的罕见疾病资料。利用描述性流行病学方法进行统计分析。结果2003-2013年豫北地区罕见疾病住院患者共55675例，1560种疾病，其中男30401例（占54.6%），女25274例（占45.4%）。罕见疾病住院患者人数由2003年的494例增加到2013年的12406例。年龄呈偏态分布，中位年龄及四分位年龄分别为17岁（4岁，45岁）。此外，0~10岁年龄组人数最多23254例（占41.8%）。男性患者普遍多于女性患者，各种疾病总人数中男性患者为女性的1.2倍。位居前三的罕见疾病是先天畸形、变形和染色体异常，血液及造血器官疾病和某些涉及免疫机制的疾病和神经系统疾病，其患病人数（所占比例）分别为17511例（31.5%），12169例（21.5%），7578例（13.6%）；泌尿生殖系统疾病病例数最少，为115例，占0.2%。结论2003-2013年豫北地区的罕见疾病住院病例呈增多趋势，其中先天畸形、变性和染色体异常，血液及造血器官疾病和某些涉及免疫机制的疾病和神经系统疾病的病例数较高；患病人群主要集中在0~10岁年龄组，且男性患者略高于女性。

Objective To assess the epidemiological characteristics of rare diseases in northern Henan Province,providing clues for more intensive research;to ascertain the high risk population and their main types,providing basis for the allocation of health resources and providing evidence for prevention measures. Methods The clinical data of rare diseases in tertiary hospitals in northern Henan Province from 2003 to 2013 were retrospectively collected and analyzed by using descriptive statistic method af-ter screening the ICD - 10 code of rare diseases and patients’home addresses. Results There were totally 55 675 hospitalized patients with rare disease and 1 560 kinds of diseases,including 30 401 male patients（54. 6% ）and 25 274 female patients （45. 4% ）in northern Henan Province from 2003 to 2013. The number of patients was increased dramatically from 494 in 2003 to 12 406 in 2013. The distribution of age was skewed,and the median age was 17（4,45）years old. The number of male pa-tients was larger than female in total,with a ratio of 1. 2∶1. The main affected group was 0 to 10 years old,with 23 254 patients （41. 8% ）. The first three common rare diseases were congenital malformation and transformation and chromosome abnormality, blood and blood forming organ diseases and immunity mechanism - related diseases,and nervous system diseases,accounting for 31. 5% ,21. 5% and 31. 5% respectively. Conclusion The number of hospitalized patients with rare diseases had been in-creased since 2003 in northern Henan Province. Congenital malformation and transformation and chromosome abnormality,blood and blood forming organ diseases and immunity mechanism - related diseases,and nervous system diseases were the first three common rare diseases. Males and children from 0 to 10 years old were more susceptible.