Rare Digestive Diseases:Difficulties in Diagnosis and Treatment,Disciplinary Development,and Future Prospects
10.12376/j.issn.2097-0501.2025.02.001
- VernacularTitle:消化系统罕见病:诊治难点、学科发展与未来展望
- Author:
Jingnan LI
1
;
Jiaming QIAN
1
Author Information
1. 中国医学科学院北京协和医院消化内科,北京 100730
- Publication Type:Journal Article
- Keywords:
rare digestive diseases;
diagnosis;
treatment;
multidisciplinary treatment
- From:
JOURNAL OF RARE DISEASES
2025;4(2):153-157
- CountryChina
- Language:Chinese
-
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 di-agnostic and treatment process,coupled with a scarcity of specific and effective therapeutic options,ulti-mately 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.
