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Assessment of pancreatic function in screened infants with cystic fibrosis
1James Fairfax Institute of Paediatric Nutrition, Children's Hospital, Camperdown, NSW, Australia.
Insights
Neonatal screening for cystic fibrosis identifies pancreatic sufficiency in nearly half of infants at diagnosis. However, some patients may lose function over time, highlighting the need for ongoing monitoring.
Area of Science:
- Pediatrics
- Genetics
- Gastroenterology
Background:
- Neonatal screening for cystic fibrosis using dried blood spot immunoreactive trypsin assay (DIRT) is crucial.
- Previous studies indicated 37% of infants diagnosed via DIRT had pancreatic sufficiency.
- Concerns existed that early testing might underestimate pancreatic sufficiency due to potential function loss over time.
Purpose of the Study:
- To reassess the prevalence of pancreatic sufficiency at diagnosis in infants with cystic fibrosis.
- To evaluate the hypothesis that pancreatic function may decline after initial diagnosis.
- To monitor the progression of pancreatic function in diagnosed patients.
Main Methods:
- Assessed pancreatic function at diagnosis in 20 additional infants using fecal fat determinations and/or pancreatic stimulation tests.
- Combined new data with previous study results for a comprehensive analysis.
- Monitored pancreatic disease progression in patients previously identified with pancreatic sufficiency.
Main Results:
- Pancreatic sufficiency was identified in 10 out of 20 (50%) newly assessed infants.
- Combined data revealed 31 out of 64 (48%) infants had pancreatic sufficiency at early diagnosis.
- Among patients with initial sufficiency, 28% showed a decline in pancreatic function over time, with 11 developing insufficiency.
Conclusions:
- The DIRT screening program effectively identifies infants with cystic fibrosis who have pancreatic sufficiency at diagnosis.
- Nearly half of infants diagnosed with cystic fibrosis through DIRT screening exhibit pancreatic sufficiency.
- A significant proportion of patients initially diagnosed with pancreatic sufficiency experience a decline in function, necessitating long-term monitoring.
Abstract:
Previously we have reported that 37% of infants with cystic fibrosis diagnosed by neonatal screening with the dried blood spot immunoreactive trypsin assay have pancreatic sufficiency. However, 34 of the 78 infants had pancreatic function tests an average 2.3 years after diagnosis, thus it was possible that the percentage with neonatal pancreatic sufficiency was underestimated, due to the loss of pancreatic function with time in some infants. To assess this hypothesis we have assessed pancreatic function at the time of diagnosis in a further 20 infants since the completion of the previous study. Results of fecal fat determinations and/or pancreatic stimulation tests indicate that 10 (50%) of these infants have pancreatic sufficiency. Combining these results with those of the previous study, 31 of 64 patients (48%) have pancreatic sufficiency at this early age. We have also monitored the progression of pancreatic disease in the 39 patients with pancreatic sufficiency recognized to date. Eleven have developed pancreatic insufficiency and require enzyme replacement therapy. Five others have shown further improvement of colipase secretion with age. We conclude that the dried blood immunoreactive trypsin screening program for cystic fibrosis does recognize patients with pancreatic sufficiency, and at diagnosis nearly half the patients are in this category. To date, 28% of patients with pancreatic sufficiency have demonstrated a variable decline in pancreatic function with age.