Advances in the genetics of pediatric chronic intestinal pseudo-obstruction
10.3760/cma.j.issn.1673-4408.2023.02.004
- VernacularTitle:儿童慢性假性肠梗阻遗传学研究进展
- Author:
Jianghua HE
1
;
Jing SHI
Author Information
1. 四川大学华西第二医院新生儿科 出生缺陷与相关妇儿疾病教育部重点实验室，成都 610041
- Keywords:
Children;
Intestinal pseudo-obstruction;
Gastrointestinal motility;
Genetics
- From:
International Journal of Pediatrics
2023;50(2):86-90
- CountryChina
- Language:Chinese
-
Abstract:
Chronic intestinal pseudo-obstruction is a serious intestinal dysmotility disorder with symptoms of bowel obstruction without mechanical obstruction.Compared with chronic intestinal pseudo-obstruction in adults, pediatric chronic intestinal pseudo-obstruction has unique clinical characteristics.Generally, 80% of pediatric chronic intestinal pseudo-obstruction cases are primary and idiopathic and there is no specific treatment, and management is mainly symptomatic.With the advancements in genetic testing, new findings have been identified, allowing for a better understanding of the underlying mechanisms of intestinal dysmotility and potential etiologies.This article reviews the genetic research progress of pediatric chronic intestinal pseudo-obstruction in recent years, introduces the pathological mechanism and clinical characteristics, and summarizes the pearls of diagnosis and treatment.
