儿童罕见病诊治现状及展望

郝婵娟; 倪鑫

doi:10.12376/j.issn.2097-0501.2022.03.001

儿童罕见病诊治现状及展望

doi: 10.12376/j.issn.2097-0501.2022.03.001

郝婵娟,
倪鑫^,

国家儿童医学中心首都医科大学附属北京儿童医院，北京 100045

基金项目:

北京市医院管理局儿科学科协同发展中心专项经费资助 XTXK201901

详细信息

通信作者:
倪鑫，E-mail: nixin@bch.com.cn

中图分类号: R725.9; R394
计量
- 文章访问数: 349
- HTML全文浏览量: 143
- PDF下载量: 128
- 被引次数: 0
出版历程
- 收稿日期: 2022-06-22
- 录用日期: 2022-07-06
- 网络出版日期: 2022-09-06

The Diagnosis and Treatment of Rare Diseases in Children: Now and Future

HAO Chanjuan,
NI Xin^,

National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China

Funding:

The Special Fund of the Pediatric Medical Coordinated Development Center of Beijing Hospitals Authority XTXK201901

More Information

Corresponding author: NI Xin, E-mail: nixin@bch.com.cn

摘要

摘要: 罕见病是指一类人群发病率很低的疾病，目前无统一定义。50%~75%的罕见病患者为出生或儿童期发病，给家庭和社会带来巨大的心理负担和经济负担。随着罕见病诊断技术的迅猛发展、治疗手段的不断进步以及相关政策的相继出台，罕见病的防治取得巨大进展。本文总结儿童罕见病的诊治进展，并对今后的努力方向做出展望。
- 儿童 /
- 罕见病 /
- 诊断 /
- 治疗
Abstract: Rare diseases refer to a group of diseases having very low incident rates in the population without unified definition up till now. Approximately 50% to 75% of rare diseases occur at birth or in childhood, incurring huge psychological and economic burden to families and society. With the rapid development of diagnostic technology and the continuous progress in treatment and the introduction of relevant policies, China has made great progress in the prevention and treatment of rare diseases. This article summarizes the latest progress in the diagnosis, clinical management, and research of pediatric rare diseases; and explores the prospects in the future.
- children /
- rare diseases /
- diagnosis /
- treatment
注释:

作者贡献：郝婵娟：文章撰写；倪鑫：设计选题与文章审核。

利益冲突：所有作者均声明不存在利益冲突。

HTML全文

参考文献(19)

[1]	马端, 李定国, 张学, 等. 中国罕见病防治的机遇与挑战[J]. 中国循证儿科杂志, 2011, 6: 81-82. https://www.cnki.com.cn/Article/CJFDTOTAL-XZEK201102003.htm
[2]	中国政府网. 关于公布第一批罕见病目录的通知[EB/OL]. (2018-05-11)[2022-05-30]. http://www.gov.cn/zhengce/zhengceku/2018-12/31/content_5435167.htm.
[3]	丁洁. 罕见病儿科医师培训[J]. 中国实用儿科杂志, 2022, 37: 253-256. https://www.cnki.com.cn/Article/CJFDTOTAL-ZSEK202204003.htm
[4]	刘薇, 张碧丽, 黄金月. 儿童罕见病管理现状、进展与前景[J]. 罕见病研究, 2022, 1: 20-27. doi: 10.12376/j.issn.2097-0501.2022.01.004
[5]	Nguengang Wakap S, Lambert DM, Olry A, et al. Estimat-ing cumulative point prevalence of rare diseases: analysis of the Orphanet database[J]. Eur J Hum Genet, 2020, 28: 165-173. doi: 10.1038/s41431-019-0508-0
[6]	王琳. 中国罕见病定义研究报告2021[R]. 上海: 中国罕见病/孤儿药定义第三次多学科专家研讨会, 2021.
[7]	张抒扬, 张学. 近年中国罕见病相关政策和实践探索[J]. 罕见病研究, 2022, 1: 1-6. doi: 10.12376/j.issn.2097-0501.2022.01.001
[8]	郑昭璟, 傅启华. 全外显子组测序在遗传性疾病分子诊断中的应用[J]. 国际检验医学杂志, 2020, 41: 769-773. doi: 10.3969/j.issn.1673-4130.2020.07.001
[9]	Lee H, Deignan JL, Dorrani N, et al. Clinical exome sequencing for genetic identification of rare Mendelian diso-rders[J]. JAMA, 2014, 312: 1880-1887. doi: 10.1001/jama.2014.14604
[10]	Clark MM, Hildreth A, Batalov S, et al. Diagnosis of gene-tic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation[J]. Sci Transl Med, 2019, 11: eaat6177.
[11]	Gorzynski JE, Goenka SD, Shafin K, et al. Ultrarapid nanopore genome sequencing in a critical care setting[J]. N Engl J Med, 2022, 386: 700-702. doi: 10.1056/NEJMc2112090
[12]	Gurovich Y, Hanani Y, Bar O, et al. Identifying facial phenotypes of genetic disorders using deep learning[J]. Nat Med, 2019, 25: 60-64.
[13]	Birgmeier J, Haeussler M, Deisseroth CA, et al. AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature[J]. Sci Transl Med, 2020, 12: eaau9113.
[14]	A NORD Comissioned Report with Avalere. Orphan Drugs in the United States: an examination of patents and orphan drug exclusivity[EB/OL]. (2021-03-25)[2022-06-22]. https://raredisease.org/new-study-investigates.
[15]	沙利文, 疼痛挑战基金会. 2022中国罕见病行业趋势观察报告[EB/OL]. (2022-02-27)[2022-06-22]. https://ww.waitaug.com/report/107536.html.
[16]	Tambuyzer E, Vandendriessche B, Austin CP, et al. Therapies for rare diseases: therapeutic modalities, progress and challen-ges ahead[J]. Nat Rev Drug Discov, 2020, 19: 93-111.
[17]	赵玉沛, 张抒扬. 罕见病诊疗指南(2019年版)[M]. 北京: 人民卫生出版社, 2019.
[18]	Putkowski S. National Organization for Rare Disorders (NORD): providing advocacy for people with rare disorders[J]. NASN Sch Nurse, 2010, 25: 38-41.
[19]	Taruscio D, Gentile AE, De Santis M, et al. EUROPLAN: a project to support the development of national plans on rare diseases in Europe[J]. Public Health Genomics, 2013, 16: 278-287.