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Exocrine pancreatic function in cystic fibrosis
O Guy-Crotte1, J Carrère, C Figarella
1Groupe de Recherche sur les Glandes Exocrines, Faculté de Médecine, Marseille, France.
Insights
Cystic fibrosis (CF) pancreatic dysfunction starts before birth. While most CF patients have insufficient pancreatic function, some with mild CF transmembrane conductance regulator (CFTR) mutations may develop it later in life.
Area of Science:
- Medical Genetics
- Pediatric Gastroenterology
- Pulmonology
Background:
- Cystic Fibrosis (CF) is a genetic disorder affecting multiple organs, notably the pancreas.
- Pancreatic dysfunction in CF is a significant cause of morbidity.
- Elevated serum immunoreactive trypsin (IRT) is a common neonatal screening marker for CF.
Purpose of the Study:
- To examine the natural history of pancreatic function in CF patients.
- To investigate the genetic determinants of pancreatic sufficiency in CF.
- To understand the long-term progression of pancreatic insufficiency in a subset of CF patients.
Main Methods:
- Retrospective analysis of patient data.
- Genetic analysis of CF transmembrane conductance regulator (CFTR) mutations.
- Longitudinal assessment of pancreatic exocrine function markers.
Main Results:
- Pancreatic dysfunction is evident early in life for most CF patients.
- Approximately 10-15% of CF patients exhibit pancreatic sufficiency at diagnosis.
- This pancreatic sufficiency is linked to specific 'mild' CFTR mutations.
- A subset of patients with initially sufficient pancreatic function can develop insufficiency over time.
Conclusions:
- CFTR genotype influences pancreatic exocrine function status.
- Pancreatic sufficiency in CF is not always permanent and can evolve.
- Monitoring pancreatic function is crucial even in CF patients with initially mild mutations.
Abstract:
Pancreatic dysfunction in cystic fibrosis (CF) begins in utero and, at birth, in most cases, cystic fibrosis is characterized by an elevated level of serum immunoreactive trypsin (IRT). If most patients with CF typically present insufficient pancreatic exocrine function, 10-15% of CF patients have pancreatic sufficiency and this status is genetically determined by one or two 'mild' mutations in CF transmembrane conductance regulator (CFTR). However, with age, these patients can develop pancreatic insufficiency.