Phenotype and genotype in hereditary chronic intestinal pseudo-obstruction with small intestine involvement.

ABSTRACT: Chronic intestinal pseudo-obstruction (CIPO) is a rare and severe intestinal motility disorder with poor long-term prognosis and high mortality rate, especially when the small intestine is involved. Due to the non-specificity of clinical symptoms, CIPO has long faced diagnostic challenges. With the advancements of sequencing technology, many hereditary CIPOs have been identified. Establishing the relationship between genotype and phenotype of hereditary CIPO to make diagnosis early has become a focal point for clinicians. This article reviewed hereditary CIPO with small intestine involvement reported in the past 25 years, collecting patients' phenotypic and genetic information, and categorizing them into several groups for comparative analysis based on the involved intestinal segments and

SUBMITTER: Chen Y 

PROVIDER: S-EPMC12408701 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature