Cystic fibrosis and pancreatic disease
- 21 Downloads
Cystic fibrosis encompasses a broad spectrum of disease activity. This is no longer considered only a childhood disease. In fact, many patients with the classic form of CF live well into adulthood, and many atypical forms of CF are now being studied. Based on gene mutations, patients may present in adulthood with single organ involvement such as chronic pancreatitis. Diagnosis and treatment of CF-related conditions are evolving areas of research and discovery. As new therapies emerge for cystic fibrosis, new therapies will also be available for related pancreatic disorders.
Unable to display preview. Download preview PDF.
References and Recommended Reading
- 3.Website: www.genet.sickkids.on.ca/cftr/: Cystic fibrosis mutation data base. Cystic Fibrosis Genentic Analysis Consortium 1998.Google Scholar
- 4.Wilschanski M, Zielenski J, Markiewicz D, et al.: Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations. J Pediatr 1995, 127:705–710. This paper describes the classification system for CFTR mutations.PubMedCrossRefGoogle Scholar
- 5.Kristidis P, Bozon D, Corey M, et al.: Genetic determin-ation of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet 1992, 50:178–184.Google Scholar
- 6.PR: Exocrine pancreatic disease in CF-clinical insights. Ped Pulm 1997, 14:110–111.Google Scholar
- 10.Sharer N, Schwarz M, Malone G, et al.: Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med 1998, 339:645–652. These were the first two published papers describing the association of CFTR gene mutations in chronic pancreatitis. Limited genetic screening found 37% and 13% of patients had mutations, respectively.PubMedCrossRefGoogle Scholar
- 11.Bishop MD, Freedman SD, Zielenski J, et al.: Does complete DNA analysis identify a higher percentage of cystic fibrosis gene mutations in patients with idiopathic recurrent acute and chronic pancreatitis? Gastroenterology 1999, 116:G4825. Patients with chronic or recurrent acute pancreatitis under-went more complete genetic analysis looking for >800 CFTR mutations and found a higher rate of mutations (62%).Google Scholar
- 20.Freedman SD: Peptamen: a novel therapy in patients with chronic pancreatitis. Gastroenterology 1997, 12:A267.Google Scholar
- 21.Ramsay BW, Farrell PM, Pencharz P, and the Concensus: Nutritional assessment and management in cystic fibro-sis: a consensus report. Am J Clin Nutr 1992, 55:109–116.Google Scholar