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Rectal Organoid Morphology Analysis ROMA: A Diagnostic Assay in Cystic Fibrosis
Published on: June 10, 2022
Distal intestinal obstruction syndrome: a diagnostic and therapeutic challenge in cystic fibrosis
Natascha S Sandy1, Lilian H P Massabki2, Aline C Gonçalves3
1University of Toronto, The Hospital for Sick Children, Department of Hepatology and Nutrition, Toronto, Canada.
Insights
Pediatric distal intestinal obstruction syndrome (DIOS) in cystic fibrosis patients is linked to pancreatic insufficiency and severe genotypes. Meconium ileus at birth is common, especially with DIOS recurrence.
Area of Science:
- Pediatric Gastroenterology
- Cystic Fibrosis Research
- Gastrointestinal Disorders
Background:
- Distal intestinal obstruction syndrome (DIOS) is a significant complication in pediatric cystic fibrosis (CF) patients.
- Understanding DIOS demographics, genotypes, and clinical presentations is crucial for effective management.
- Identifying factors associated with DIOS recurrence can improve long-term patient outcomes.
Purpose of the Study:
- To evaluate the demographics, genotype, and clinical presentation of pediatric patients with DIOS.
- To identify factors associated with DIOS recurrence in this cohort.
- To provide insights into DIOS management within a South American reference center.
Main Methods:
- Retrospective case series of ten pediatric patients diagnosed with DIOS.
- Data collection included patient demographics, CF genotype, meconium ileus history, pancreatic insufficiency (PI), and clinical manifestations.
- Analysis of diagnostic imaging, acute management strategies, maintenance therapy, and follow-up recurrence data.
Main Results:
- All patients exhibited two risk factors: pancreatic insufficiency and severe CF genotype (predominantly delta F508 homozygosis).
- Seven out of ten patients had a history of meconium ileus at birth.
- Eighty-five percent of DIOS episodes were managed successfully with laxatives or rectal therapy; recurrence was observed in 50% of patients.
Conclusions:
- Pancreatic insufficiency and severe CF genotype are universal risk factors for DIOS in pediatric patients.
- Meconium ileus at birth is a significant predictor, particularly for DIOS recurrence.
- Diagnosis relies on clinical presentation and imaging, with varied management practices observed.
Objective:
To evaluate the demographics, genotype, and clinical presentation of pediatric patients presenting with distal intestinal obstruction syndrome (DIOS), and factors associated with DIOS recurrence.
Methods:
Case series of ten patients (median age 13.2 years), followed-up in a reference center, retrospectively assessed. Data analyzed included age, gender, cystic fibrosis genotype, meconium ileus at birth, hydration status, pulmonary exacerbation, Pseudomonas aeruginosa colonization, pancreatic insufficiency (PI), body mass index (BMI) at the episodes, clinical manifestations of DIOS, imaging studies performed, acute management of DIOS, maintenance therapy, and recurrence on follow-up.
Results:
All patients had two positive sweat chloride tests, and nine of ten also had genotype study. The most common genotype identified was homozygosis for the delta F508 mutation. In seven cases, a previous history of meconium ileus was reported. All patients had pancreatic insufficiency. Diagnosis of DIOS was based on clinical and imaging findings. Of the total number of episodes, 85% were successfully managed with oral osmotic laxatives and/or rectal therapy (glycerin enema or saline irrigation). Recurrence was observed in five of ten patients.
Conclusion:
In this first report of pediatric DIOS in South America, the presence of two risk factors for DIOS occurrence was universal: pancreatic insufficiency and severe genotype. Medical history of meconium ileus at birth was present in most patients, as well as in the subgroup with DIOS recurrence. The diagnosis relied mainly on the clinical presentation and on abdominal imaging. The practices in the management of episodes varied, likely reflecting changes in the management of this syndrome throughout time.
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