|本期目录/Table of Contents|

[1]王 婷,余 江.1 820例罕见病的临床特征分析[J].中华肺部疾病杂志,2024,(01):68-72.[doi:10.3877/cma.j.issn.1674-6902.2024.01.013]
　Wang Ting,Yu Jiang..Clinical characteristics analysis of 1 820 rare diseases[J].,2024,(01):68-72.[doi:10.3877/cma.j.issn.1674-6902.2024.01.013]
点击复制

1 820例罕见病的临床特征分析(PDF)

《中华肺部疾病杂志》[ISSN:1006-6977/CN:61-1281/TN]

卷:
期数:
2024年01期
页码:
68-72
栏目:
论著
出版日期:
2024-02-20

文章信息/Info

Title:
Clinical characteristics analysis of 1 820 rare diseases
作者:
王 婷; 余 江
400037 重庆,陆军(第三)军医大学第二附属医院门诊部
Author(s):
Wang Ting;  Yu Jiang.
Department of Outpatient, The Second Affiliated Hospital of Army Medical University, Chongqing 400037, China
关键词:
罕见病;  流行病学;  临床特征;  预后
Keywords:
Rare disease;  Epidemiology;  Clinical characteristics;  Prognosis
分类号:
R181.2
DOI:
10.3877/cma.j.issn.1674-6902.2024.01.013
摘要:
目的 分析罕见病(rare diseases)患者的临床流行分布特征。方法 选择2019年1月至2021年12月我院收治1 820例罕见病住院患者为对象。结果 1 820罕见病住院患者为同期我院收治住院患者总例数360 348例的0.51%。1 820例罕见病患者中,男1 136例,女684例,罕见病住院患者病例数男女性别比为1.41︰1; 不同年龄段病例数分布依次为青壮年例数>中老年例数>少年例数>儿童例数; 涉及21个疾病系统分类中的10个分类,其中神经系统疾病患者最多为1 149例(63.13%); 共覆盖10种罕见病例为1 202例(66.04%),依次是同型半胱氨酸血症598例(49.75%),视神经脊髓炎谱系疾病139例(11.56%),自身免疫性脑炎117例(9.73%),多系统萎缩84例(6.99%),Castleman病79例(6.57%),黑斑息肉综合征44例(3.66%),心室肌致密化不全43例(3.58%),脊髓小脑性共济失调38例(3.16%),系统性硬化症31例(2.58%),马凡氏综合征29例(2.41%); 随访和预后结果,罕见病总体随访1405例(77.20%),其中,同型半胱氨酸血症的随访为524例(87.63%),有效率为475例(90.64%)。结论 罕见病患病年龄跨度大、疾病类型多样、疗效和预后的差异较大。
Abstract:
Objective To analyze the clinical prevalence distribution characteristics of patients with rare diseases. Methods The medical records of 1 820 cases of Rare disease hospitalized in our hospital from 2019 to 2021 were selected for descriptive epidemiological research. Results The 1 820 rare disease inpatients accounted for 0.51% of the total 360 348 inpatients admitted to our hospital during the same period. Among 1 820 patients with rare diseases, 1 136 were males and 684 were females. The sex ratio of hospitalized patients with rare diseases was 1.41︰1; The distribution of cases in different age groups was as follows: young adults > middle-aged and elderly > adolescents > children; Ten of the 21 disease system classifications were involved, among which the largest number of patients with neurological diseases was 1 149(63.13%); a total of 1 202 cases(66.04%)were covered by the 10 types of rare cases, in the following order: homocysteinemia, 598(49.75%); optic neuromyelitis optica, 139(11.56%); autoimmune encephalitis, 117(9.73%); and multiple system atrophy, 84 cases(9.73%), multiple system atrophy in 84 cases(6.99%), Castleman's disease in 79 cases(6.57%), dark spot polyp syndrome in 44 cases(3.66%), ventricular myocardial densification insufficiency in 43 cases(3.58%), spinal cerebellar ataxia in 38 cases(3.16%), systemic sclerosis in 31 cases(2.58%), and Marfan syndrome in 29 cases(2.41%); Follow-up and prognostic results, overall follow-up of rare diseases was 1 405 cases(77.20%), of which 524 cases(87.63%)were followed up for homocysteinemia, with an effective rate of 475 cases(90.64%). Conclusion Rare diseases are characterized by a wide age range of prevalence, diverse types of disease, and wide variation in efficacy and prognosis.

参考文献/References:

1 Tambuyzer E, Vandendriessche B, Austin CP, et al. Therapies for rare diseases: therapeutic modalities, progress and challenges ahead[J]. Nat Rev Drug Discov, 2020, 19(2): 93-111.
2 Tambuyzer E. Rare diseases, orphan drugs and their regulation: questions and misconceptions[J]. Nat Rev Drug Discov, 2010, 9(12): 921-929.
3 Ferreira CR. The burden of rare diseases[J]. Am J Med Genet A, 2019, 179(6): 885-892.
4 Marwaha S, Knowles JW, Ashley EA. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome[J]. Genome Med, 2022, 14(1): 23. DOI:10.1186/s13073-022-01026-w.
5 Chung CCY, Hong Kong Genome Project, Chu ATW, et al. Rare disease emerging as a global public health priority[J]. Front Public Health, 2022, 18(10): 1028545.
6 何 山, 高仕奇, 何欣悦, 等. 中国罕见病领域新进展(2020-2021)[J]. 协和医学杂志, 2022, 13(1): 39-45.
7 胡红濮, 戴国琳, 陈庆锟, 等. 罕见病智能知识服务体系设计[J]. 中国全科医学, 2021, 24(28): 3629-3633.
8 Farnaes L, Hildreth A, Sweeney NM, et al. Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization[J]. NPJ Genom Med, 2018, 3: 10.DOI:10.1038/s41525-018-0049-4.eCollection 2018.
9 Haendel M, Vasilevsky N, Unni D, et al. How many rare diseases are there[J]? Nat Rev Drug Discov, 2020, 19(2): 77-78.
10 Pogue RE, Cavalcanti DP, Shanker S, et al. Rare genetic diseases: update on diagnosis, treatment and online resources[J]. Drug Discov Today, 2018, 23(1): 187-195.
11 曾溢滔. 罕见病的诊断与治疗[J]. 上海医学, 2022, 45(8): 515-519.
12 孙艺航, 刘叔文. 我国罕见病诊疗与孤儿药的发展现状与路径[J]. 中国药理学通报, 2023, 39(4): 601-605.
13 李林康, 陶雪怡. 我国罕见病诊疗与保障事业现状及展望[J]. 中国新药与临床杂志, 2023, 42(2): 65-70,60.
14 马 原, 黄裕翔, 李 黎, 等. 某妇产儿童专科医院儿童罕见病住院患者疾病特征与费用分析[J]. 中国卫生统计, 2023, 40(4): 563-566, 569.
15 张永理, 张开然. 我国罕见病患者医疗保障现状及改进建议[J]. 卫生经济研究, 2023, 40(1): 53-56, 60.
16 李 倩, 高建民, 牟怡平, 等. 某院2015年-2019年罕见病住院病例特征分析[J]. 中国卫生质量管理, 2021, 28(8): 27-30.
17 温 馨, 王杉杉, 蔡 剑, 等. 浙江省2007-2017年罕见病住院病例特征分析[J]. 中华流行病学杂志, 2020, 41(3): 400-405.
18 张 文, 马 悦, 李 倩, 等. 某三级综合医院前五位罕见病住院费用影响因素分析[J]. 现代医院, 2023, 23(4): 585-588+595.
19 刘 薇, 鲁卓林, 黄金月, 等. 儿童罕见病诊疗同质化管理模式专家建议[J]. 中国当代儿科杂志, 2023, 25(7): 663-671.
20 戴 婧, 梁 鸿. 结构化视角下罕见病多层次医疗保障体系构建研究[J]. 医学与社会, 2023, 36(12): 111-117.DOI:10.13723/j.yxysh.2023.12.018.
21 宋春花, 陈 艺, 王凯娟, 等. 河南省中部地区2003-2013年罕见病住院患者分布[J]. 河南医学研究, 2016, 25(5): 769-773.
22 Baranello G, Darras BT, Day JW, et al. Risdiplam in type 1 spinal muscular atrophy[J]. N Engl J Med, 2021, 384(10): 915-923.
23 Darras BT, Masson R, Mazurkiewicz-Bedzinska M, et al. Risdiplam-treated infants with type 1 spinal muscular atrophy versus historical controls[J]. N Engl J Med, 2021, 385(5): 427-435.
24 韦石凤, 孙忠实, 赵志刚. 罕见病脊髓性肌萎缩症治疗新药利司扑兰的临床药理与应用[J]. 中国临床药理学杂志, 2022, 38(2): 171-174, 184.
25 曾淑金, 吴良淼, 翁开源. 多层次视角下国内外罕见病用药保障支持体系研究[J]. 医学与社会, 2023, 36(3): 30-35.
26 潘 锋. 罕见病需要构建多层次医疗服务与保障体系[J]. 中国医药导报, 2022, 19(7): 1-6.

备注/Memo

备注/Memo:
基金项目: 重庆市科卫联合项目(2023MSXM105)
通信作者:余 江, Email: 541270057@qq.com
更新日期/Last Update: 2024-02-20