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皮肤罕见病诊治进展及管理体系建设

刘晓涵,  晋红中

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文章导航 > 罕见病研究  > 2023 >  2(2): 147-152
刘晓涵, 晋红中. 皮肤罕见病诊治进展及管理体系建设[J]. 罕见病研究, 2023, 2(2): 147-152. doi: 10.12376/j.issn.2097-0501.2023.02.001
引用本文: 刘晓涵, 晋红中. 皮肤罕见病诊治进展及管理体系建设[J]. 罕见病研究, 2023, 2(2): 147-152. doi: 10.12376/j.issn.2097-0501.2023.02.001
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LIU Xiaohan, JIN Hongzhong. Progress in the Diagnosis and Treatment and the Establishment of Care System for Rare Skin Diseases[J]. Journal of Rare Diseases, 2023, 2(2): 147-152. doi: 10.12376/j.issn.2097-0501.2023.02.001
Citation: LIU Xiaohan, JIN Hongzhong. Progress in the Diagnosis and Treatment and the Establishment of Care System for Rare Skin Diseases[J]. Journal of Rare Diseases, 2023, 2(2): 147-152. doi: 10.12376/j.issn.2097-0501.2023.02.001
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皮肤罕见病诊治进展及管理体系建设

doi: 10.12376/j.issn.2097-0501.2023.02.001

  • 中国医学科学院北京协和医院皮肤科 疑难重症及罕见病国家重点实验室 国家皮肤与免疫疾病临床医学研究中心，北京 100730

基金项目: 

中央高水平医院临床科研业务费 2022-PUMCH-B-092

国家重点研发计划 2022YFC3601800

国家自然科学基金面上项目 82073450

详细信息
    通信作者:

    晋红中，E-mail：jinhongzhong@263.net

  • 中图分类号: R751

Progress in the Diagnosis and Treatment and the Establishment of Care System for Rare Skin Diseases

  • Department of Dermatology, State Key Laboratory of Complex Severe and Rare Diseases, National Clinical Research Center for Dermatologic and Immunologic Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China

Funding: 

National High Level Hospital Clinical Research Funding 2022-PUMCH-B-092

The National Key Research and Development Program of China 2022YFC3601800

National Natural Science Foundation of China 82073450

More Information

    摘要
  • 摘要: 皮肤罕见病种类多样，诊疗中面临诸多挑战及困难。近年来皮肤罕见病的诊断水平不断提高，以二代测序技术为代表的分子诊断工具，可有效辅助临床建立罕见病精准诊断。孤儿药研发及基因治疗不断取得突破和进步，为皮肤罕见病患者带来了曙光。建立科学的疾病管理体系、分级转诊网络及规范化的诊疗路径对提高皮肤罕见病的诊治水平至关重要。本文总结了目前皮肤罕见病的诊疗进展，并对未来发展做出展望。

     

    Abstract: Rare skin diseases are various in kinds facing many challenges and difficulties in diagnosis and treatment. Recently, the diagnosis of rare skin diseases has improved continuously. Molecular diagnostic tool, a representation of the next generation sequencing technology, can effectively assist the accuracy of clinical diagnosis for rare diseases. The research and development of orphan drugs and gene therapy have made continuous breakthroughs and progress, bringing hope to patients with rare skin diseases. It is crucial to establish scientific disease management system of the disease, layered referral networks, and the standardized clinical pathways to improve the diagnosis and treatment level of rare skin diseases.This article provides a brief overview of the progress in the diagnosis and treatment of rare skin diseases and explore the future possibilities.

     

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出版历程
  • 收稿日期:  2023-01-17
  • 录用日期:  2023-02-17
  • 网络出版日期:  2023-05-05

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