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Published on: April 4, 2018
Pediatric Intestinal Pseudo-obstruction in the Era of Genetic Sequencing
1Division of Pediatric Gastroenterology, Hepatology and Nutrition, Medical College of Wisconsin, Children's Hospital of Wisconsin, Milwaukee, WI, USA. Heidi.gamboa@nicklaushealth.org.
Insights
Advances in genetic testing reveal new mutations in pediatric intestinal pseudo-obstruction (PIPO), improving understanding of intestinal dysmotility. This review covers current knowledge and genetic insights into this complex condition.
Area of Science:
- Pediatric Gastroenterology
- Genetics
- Molecular Biology
Background:
- Pediatric intestinal pseudo-obstruction (PIPO) presents with symptoms of bowel obstruction without a physical blockage.
- It is a complex group of disorders arising from issues with enteric neurons, smooth muscle, or interstitial cells of Cajal.
- PIPO differs from adult chronic intestinal pseudo-obstruction (CIPO) in etiology, onset, and clinical course.
Purpose of the Study:
- To review current knowledge on pediatric intestinal pseudo-obstruction.
- To discuss novel mutations identified through genetic testing.
- To enhance understanding of intestinal dysmotility mechanisms and etiologies in children.
Main Methods:
- Review of current literature on pediatric intestinal pseudo-obstruction.
- Analysis of recent genetic testing advancements and identified mutations.
- Discussion of underlying molecular mechanisms and potential etiologies.
Main Results:
- Genetic advancements have identified new mutations in disorders like megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS).
- Mutations in MYLK, LMOD1, MYL9, and MYH11 affect smooth muscle proteins, leading to abnormal intestinal contractions.
- PIPO is a distinct entity from CIPO due to fundamental differences in pediatric presentation and natural history.
Conclusions:
- Genetic testing is crucial for diagnosing PIPO and understanding its molecular basis.
- Identifying specific mutations aids in understanding intestinal smooth muscle dysfunction.
- Further research into PIPO's heterogeneous causes is needed for improved diagnosis and management.
Purpose Of Review:
The purpose of this review is to discuss current knowledge on pediatric intestinal pseudo-obstruction. We will also review new mutations that have been identified through advancement in genetic testing, allowing for a better understanding of the underlying mechanisms of intestinal dysmotility and potential etiologies.
Recent Findings:
With the advancements in genetic testing, new mutations have been identified in the diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), a disorder leading to pediatric pseudo-obstruction. MYLK, LMOD1, MYL9, and MYH11 encode for various proteins within smooth muscle cells; abnormalities within these proteins lead to abnormal intestinal smooth muscle contractions. Chronic intestinal pseudo-obstruction (CIPO) is defined by symptoms of bowel obstruction in the absence of a lumen-occluding lesion. CIPO is a heterogeneous group of disorders caused by abnormalities in the enteric neurons, intestinal smooth muscle, and/or the interstitial cells of Cajal (ICC). Symptoms can be non-specific and etiologies include both primary and secondary causes of CIPO that contribute to the delay in recognizing this condition and making the correct diagnosis. Chronic intestinal pseudo-obstruction has been recognized in both adults and children with fundamental differences in the etiology, symptom onset, clinical features and natural history of this disorder. For this reason, it has been considered a separate entity referred to as pediatric intestinal pseudo-obstruction (PIPO).
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