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Early decline of pancreatic function in cystic fibrosis patients with class 1 or 2 CFTR mutations
Jaroslaw Walkowiak1, Dorota Sands, Anna Nowakowska
1Institute of Pediatrics, Department of Gastroenterology and Metabolism, Karol Marcinkowski University of Medical Sciences, 60-572 Poznan, Poland. jarwalk@am.poznan.pl
Insights
Cystic fibrosis (CF) infants with severe CFTR mutations experience pancreatic insufficiency and steatorrhea within the first year of life. Early monitoring and enzyme therapy are crucial for managing CF-related malabsorption.
Area of Science:
- Pediatric Gastroenterology
- Genetics
- Pulmonology
Background:
- Cystic Fibrosis (CF) often leads to steatorrhea and pancreatic enzyme replacement therapy needs.
- Limited data exist on early exocrine pancreatic function decline in relation to CF genotype.
- This study focused on CF infants with class 1 or 2 CFTR mutations diagnosed via neonatal screening.
Purpose of the Study:
- To assess the decline of exocrine pancreatic function in infants with cystic fibrosis (CF) carrying specific CFTR mutations.
- To correlate pancreatic function decline with CF genotype in early life.
- To establish the timeline of pancreatic insufficiency development in screened CF infants.
Main Methods:
- Twenty-eight infants with CF were enrolled; 27 completed the study.
- Fecal pancreatic elastase-1 concentrations and fecal fat excretion were measured serially from diagnosis.
- Assessments occurred at diagnosis, 6 months, and 6-month intervals thereafter.
Main Results:
- All CF infants showed low fecal pancreatic elastase-1 levels (<200 microg/g) by 3-4 months of age.
- Steatorrhea was present in 81.5% of subjects early on.
- By 12 months of age, all participants demonstrated pancreatic insufficiency.
Conclusions:
- Pancreatic insufficiency develops within the first months of life in CF patients with class 1 or 2 CFTR mutations.
- Close monitoring of pancreatic status is essential from diagnosis in all CF patients.
- Early assessment of pancreatic insufficiency and malabsorption guides timely pancreatic enzyme introduction.
Background:
Most cystic fibrosis (CF) patients develop steatorrhea and require pancreatic enzyme replacement therapy. However, there are few data regarding the decline of exocrine pancreatic function within the first years of life in relation to CF genotype. We assessed the decline of pancreatic function in CF infants carrying class 1 or 2 CFTR mutations who were diagnosed in a neonatal screening program.
Materials And Methods:
Twenty-eight CF patients were included in the study and 27 completed the study. In all subjects, fecal pancreatic elastase-1 concentrations and fecal fat excretion were scheduled to be determined at diagnosis, at 6 months of age and subsequently at 6-month intervals.
Results:
In all CF patients, fecal pancreatic elastase-1 concentrations of the first assay after diagnosis (3 to 4 months of age) were lower than the cut-off level for normals of <200 microg/g stool. Steatorrhea was found in 81.5% of these subjects. At the age of 6 months, all screened CF subjects had fecal pancreatic elastase-1 concentrations <100 microg/g and at the age of 12 months all were pancreatic insufficient. At that time, having proved pancreatic insufficiency in all studied subjects, we stopped the scheduled further assessment.
Conclusion:
CF patients require careful monitoring of pancreatic status from diagnosis onwards. In patients carrying class 1 or 2 CFTR mutations, pancreatic insufficiency develops in the first months of life. The proper assessment of pancreatic insufficiency and intestinal malabsorption is crucial for the early introduction of pancreatic enzymes.
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