Advances in the genetics of pediatric chronic intestinal pseudo-obstruction / 国际儿科学杂志

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.