Progress in the diagnosis and treatment of monogenic inflammatory bowel disease
10.3760/cma.j.cn101480-20240924-00108
- VernacularTitle:单基因炎症性肠病诊治进展
- Author:
Yanqiu WANG
1
;
Lin WANG
1
;
Ying HUANG
1
Author Information
1. 复旦大学附属儿科医院消化科，上海 201102
- Publication Type:Journal Article
- Keywords:
Monogenic inflammatory bowel disease;
Genetic testing;
Precision diagnosis and treatment;
Whole exome sequencing;
Small molecule drugs;
Biological agents;
S
- From:
Chinese Journal of Inflammatory Bowel Diseases
2025;09(5):429-435
- CountryChina
- Language:Chinese
-
Abstract:
As advance of genetic testing technologies, an increasing number of inflammatory bowel disease caused by monogenic variations are being discovered. Clinical manifestations of monogenic inflammatory bowel disease (mIBD) can vary depending on the pathogenic gene and underlying mechanism, and targeted therapies are emerging. This review summarizes the clinical characteristics and potential therapeutic targets of mIBD, aiding clinicians in early recognition and precision treatment.
