消化系统罕见病:诊治难点、学科发展与未来展望

Rare Digestive Diseases: Difficulties in Diagnosis and Treatment, Disciplinary Development, and Future Prospects

  • 摘要: 消化系统罕见病是指以消化系统为主要受累的罕见疾病。目前临床上尚缺乏关于消化系统罕见病的具体分类,临床医师对消化系统罕见病的知晓率低,诊疗过程中易漏诊、误诊,缺乏特异有效的治疗手段,给患者带来巨大的疾病负担。随着第一批、第二批国家罕见病目录的颁布,被纳入消化系统罕见病的种类不断增多,临床医师及患者对消化系统罕见病的知晓率也相应增加。消化内科医师在罕见病多学科协作诊疗中的作用日益凸显,消化系统罕见病的学科建设和临床研究的发展,罕见病多学科协作诊疗的不断开展,以及消化系统罕见病多学科团队的建立,有助于全面提高消化系统罕见病的诊疗能力,为大规模、高水平研究的开展奠定了坚实基础。

     

    Abstract: Rare digestive diseases refer to rare disorders that primarily affect the digestive system. Currently, there is no standardized clinical classification system for these conditions, and physicians have low awareness of them. This leads to a high likelihood of missed diagnoses and misdiagnoses during the diagnostic and treatment process, coupled with a scarcity of specific and effective therapeutic options, ultimately imposing a tremendous disease burden on patients. With the publication of China′s first and second batches of rare disease catalogs, many rare digestive diseases have been progressively included, thereby enhancing awareness among clinicians and patients. The role of gastroenterologists in the multidisciplinary treatment(MDT) of rare diseases is becoming increasingly prominent. The advancement in the disciplinary construction and clinical research of rare digestive diseases, the ongoing implementation of the MDT, and the establishment of multidisciplinary teams for rare digestive diseases collectively enhance the diagnostic and therapeutic capabilities for rare digestive diseases and lay a solid foundation for large-scale, high-quality clinical research.

     

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