Advances and Prospectives in Diagnosis and Treatment of Rare Small Intestinal Diseases
10.12376/j.issn.2097-0501.2025.02.003
- VernacularTitle:小肠罕见疾病的诊疗进展及展望
- Author:
Ji LI
1
;
Xueyan CHEN
1
;
Yang CHEN
1
;
Jingnan LI
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 diseases;
small intestinal diseases;
diagnosis;
treatment
- From:
JOURNAL OF RARE DISEASES
2025;4(2):165-172
- CountryChina
- Language:Chinese
-
Abstract:
Rare small intestinal diseases are characterized by a broad disease spectrum,non-specific clinical manifestations,and relatively limited diagnostic modalities,which significantly hinder early diagnosis and treatment.Meanwhile,the subspecialty development of rare digestive diseases lags behind,with insufficient physician awareness and a scarcity of experienced multidisciplinary collaborative teams,further exacerbating the difficulties in disease management.In recent years,advancements in gene testing technologies,along with con-tinuous refinements in imaging and endoscopic techniques,have substantially improved the diagnostic and ther-apeutic landscape for rare small intestinal diseases.This article outlines the difficulties and challenges in diag-nosing and treating these conditions,and reviews the evolving applications of common diagnostic and therapeutic approaches across various rare small intestinal diseases.
