罕见病诊治及全过程管理：全科医生的作用不可或缺

doi:10.12114/j.issn.1007-9572.2023.0925

摘要/Abstract

摘要： 罕见病是发病率低且诊治和管理难度极大的一组疾病。随着医疗技术的发展，近年来罕见病逐渐开始受到关注。作为健康守门人和患者及其家庭的健康管理者，很多国家的全科医生开始被纳入罕见病管理框架。文章介绍了全科医生参与罕见病诊治和管理的现状，包括在管理流程中的角色，为之付出的努力和罕见病知识方面的不足。尽管全科医生在罕见病识别上还存在挑战，但大部分全科医生有意愿通过提高对罕见病的认识和改善培训，可以有效地参与罕见病患者的全程管理，在早期识别、协调治疗和提供综合服务方面扮演着重要角色。

关键词: 少见病, 全科医生, 全程管理, 诊断, 治疗

Abstract:

Rare diseases, characterized by low prevalence and significant challenges in diagnosis and management, have increasingly gained attention in recent years due to advancements in medical technology. As gatekeepers of health and managers of patient and family health, general practitioners in many countries are now being integrated into the framework for managing rare diseases. The article discusses the current status of general practitioners in the diagnosis and management of rare diseases, including their role in the management process, efforts made, and the lack of knowledge about rare diseases. It highlights that despite challenges in recognizing rare diseases, most general practitioners are willing to improve their awareness and training. They can effectively participate in the comprehensive management of patients with rare diseases, playing a vital role in early identification, coordinating treatment, and providing integrated services.

Key words: Rare diseases, General practitioners, Comprehensive management, Diagnosis, Therapy

中图分类号:

R 364

顾洁,黄延焱. 罕见病诊治及全过程管理：全科医生的作用不可或缺[J]. 中国全科医学, 2025, 28(16): 1955-1960. DOI: 10.12114/j.issn.1007-9572.2023.0925.
GU Jie,HUANG Yanyan. Diagnosis and Comprehensive Management of Rare Diseases: the Indispensable Role of General Practitioners[J]. Chinese General Practice, 2025, 28(16): 1955-1960. DOI: 10.12114/j.issn.1007-9572.2023.0925.

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