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(1): 20-27. DOI: 10.12376/j.issn.2097-0501.2022.01.004
引用本文: 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(1): 20-27. DOI: 10.12376/j.issn.2097-0501.2022.01.004
LIU Wei, ZHANG Bili, HUANG Jinyue. Management of Rare Diseases in Children: Status Quo, Progress and Prospects[J]. Journal of Rare Diseases, 2022, 1(1): 20-27. DOI: 10.12376/j.issn.2097-0501.2022.01.004
Citation: LIU Wei, ZHANG Bili, HUANG Jinyue. Management of Rare Diseases in Children: Status Quo, Progress and Prospects[J]. Journal of Rare Diseases, 2022, 1(1): 20-27. DOI: 10.12376/j.issn.2097-0501.2022.01.004

儿童罕见病管理现状、进展与前景

Management of Rare Diseases in Children: Status Quo, Progress and Prospects

  • 摘要: 儿童罕见病,并无标准定义,可以被理解为儿童时期发病的罕见病,亦或罕见病患者的儿童时期。具有患病率低、临床罕见、种类繁多、难诊难治的特点。近年来,随着医学事业的高速发展,罕见病管理体系的建立及推广,罕见病的诊断技术和治疗手段取得较大进步,罕见病管理保障得到逐步拓展与完善,但仍面临着挑战与机遇。中国幅员辽阔,各层级医疗资源不对称,对许多罕见病的发病机制认识受限,检测手段参差不齐,诊疗能力存在差异,大多数罕见病仍被误诊或长期漏诊。因此,从罕见病层级管理手段入手,进行合理分流、危险分层、早期诊断、科学救治,着眼整合区域诊疗管理体制建设尤为重要。有多项研究证实罕见病发生存在一定遗传异质性,半数以上于出生时或儿童期发病,死亡率高,存活患者多有功能残障等。因此,儿童期发病的罕见病更应引起医药卫生领域的高度重视,儿童罕见病的规范化、制度化、法制化管理亟待推进。本文主要探讨儿童罕见病管理现状,总结目前儿童罕见病的临床进展,并对未来前景做出展望,以期为儿童罕见病的管理提供一定的参考意见。

     

    Abstract: There is uniformed definition of rare diseases in children, which can be viewed as rare diseases that develop in childhood, or the childhood of patients with rare diseases. Rare diseases are rarely seen in clinical setting, various in types and difficult to diagnose and treat. In the past few years, with the rapid development of medical technology and the establishment and wide application of rare disease management systems, great progress has been made in the diagnosis and treatment of rare diseases. Although the management of rare diseases is being gradually expanded and enhanced, there are still challenges, or opportunities for further improvement. China is a vast country with imbalanced distribution of medical resources. In many places, people have limited knowledge about the pathogenesis of many rare diseases. Capacities vary in the detection, diagnosis, and treatment of rare disease in different places. As a result, most rare diseases are either misdiagnosed or not diagnosed at all. Therefore, it is of great significance to establish a hierarchical system for the management of rare diseases, i.e., appropriate triage, risk stratification, early diagnosis and scientific treatment, and integrate regional resources into rare disease management. Studies have confirmed the existance of heterogeneity of rare diseases, with more than half of them occurring at birth or in childhood and that they are associated with a high mortality rate and a high incidence of functional disabilities in survivors. Therefore, rare diseases in child-ren deserve more attention. Standardized, protocol-based, law-based management of rare diseases in children is in urgent need. The article aims to discuss the status quo of the management of rare diseases in children, to summarize the clinical progress of rare diseases in children and to explore its prospects in the future, in the hope to provide some reference for the management of rare diseases in children.

     

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