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Protracted neonatal hypertrypsinogenaemia, normal sweat chloride, and cystic fibrosis
C Castellani1, A Tamanini, G Mastella
1Cystic Fibrosis Centre, Ospedale Civile Maggiore, Piazzale Stefani 1, 37126 Verona, Italy. cfc@linus.univr.it
Insights
Atypical cystic fibrosis (CF) can present with normal sweat tests in screened infants. Raised trypsinogen levels beyond two months may indicate CF with lung issues, even with negative sweat tests.
Area of Science:
- Pediatric Pulmonology
- Genetic Diseases
- Neonatal Screening
Background:
- The clinical spectrum of cystic fibrosis (CF) is expanding, including atypical presentations.
- Neonatal screening aims to detect CF early, but challenges remain in interpreting borderline cases.
Observation:
- Two cases are presented of infants identified through neonatal CF screening.
- These infants had persistently elevated trypsinogen levels at two months of age.
Findings:
- Despite negative sweat tests, these children exhibited symptoms suggestive of atypical CF.
- The cases indicate potential for significant pulmonary involvement in these atypical CF cases.
Implications:
- Neonatal screening protocols may need refinement to account for atypical CF presentations.
- Early identification of atypical CF is crucial for timely intervention and management of pulmonary complications.
Abstract:
The cystic fibrosis (CF) clinical spectrum has greatly expanded in the past few years, including atypical forms with low sweat chloride concentrations. Two cases are presented which suggest that children detected by neonatal CF screening whose trypsinogen concentrations are still raised by the second month of age could, despite a negative sweat test, be affected by an atypical CF with fully expressed pulmonary involvement.