Key References

The US Cystic Fibrosis Foundation website, comprehensive information for patients and professionals, as well as information on CF Care Centers.
http://www.cff.org/ (Links to an external site.)Links to an external site.

The UK CF Trust website contains comprehensive information about cystic fibrosis care in the UK, including fact sheets about subjects such as genetics and nutrition, as well as information about CF medical and scientific research.
www.cftrust.org.uk (Links to an external site.)Links to an external site.

Cystic Fibrosis Care: A Practical Guide Chapter 3. Edited by A. Peebles, G. Connett, J. Maddison and J. Gavin. (2005). Elsevier. ISBN 0-443-10003-9.

Clinical References

An example of a UK Specialist CF Care Centre
http://www.heartlandscf.org (Links to an external site.)Links to an external site.

Overview of UK CF
https://www.cysticfibrosis.org.uk/the-work-we-do/about-us (Links to an external site.)Links to an external site.

The Map of Medicine site includes an overview of care pathways for children and adults with cystic fibrosis. This site is currently only available in the UK.
http://mapofmedicine.com/how-we-can-help/map-pathways/ (Links to an external site.)Links to an external site.

UK Association of Genetic Nurses and Counsellors
www.agnc.org.uk/ (Links to an external site.)Links to an external site.

Ferguson JH & Chang AB. (2012). Vitamin D supplementation for cystic fibrosis. Cochrane Database Syst Rev. 4:CD007298 http://www.ncbi.nlm.nih.gov/pubmed/22513949/ (Links to an external site.)Links to an external site.

Laguna TA, Nathan BM, Moran A. (2010) Managing diabetes in cystic fibrosis. Diabetes Obes Metab. 1: 858-864.

McKay KO. (2007). Cystic fibrosis: benefits and clinical outcome. J Inherit Metab Dis. 30(4):544-55 PMID: 17619175

Moran A, Becker D, Casella SJ et al. (2010). Epidemiology, pathophysiology and prognostic implications of cystic fibrosis-related diabetes. Diabetes care. 33(12):2677-2683.

Moran A, Brunzell C, Cohen RC et al. (2010). Clinical care guidelines for cystic fibrosis-related diabetes. Diabetes care. 33(12):2697-2708.

Moran A, Dunitz J, Nathan B, Saeed A, Holme B, Thomas W. (2009). Cystic fibrosis-related diabetes: Current trends in prevalence, incidence, and mortality. Diabetes Care. 32:1626-1631.

Phillips IJ, Rowe DJ, Dewar P, Connett GJ. (1999). Faecal elastase 1: a marker of exocrine pancreatic insufficiency in cystic fibrosis. Ann Clin Biochem. 6:739-42. PMID: 10586310

Stallings VA, Stark LJ, Robinson FA, Feranchak AP, Quinton H. (2008). Evidence-based practice recommendations for nutrition related management of children and adults with cystic fibrosis and pancreatic insufficiency: Results of a systematic review. J Amer Diet Assoc. 108:832-839.

Sugarman EA, Rohlfs EM, Silverman LM, Allitto BA. (2004). CFTR mutation distribution among U.S. Hispanic and African American individuals: Evaluation in cystic fibrosis patient and carrier screening populations. Genetics in Medicine. 6(5):392-9.

Trabulsi J, Ittenbach RF, Schall JI, Olsen IE, Yudkoff M, Daikhin Y, Zemel BS, Stallings VA. (2007). Evaluation of formulas for calculating total energy requirements of preadolescent children with cystic fibrosis. Am J Clin Nutr. 85(1):144-51. PMID: 17209190

Wagener JS, Zemanick ET, Sontag MK. (2012). Newborn screening for cystic fibrosis. Curr Opin Pediatr. 24(3):329-335.

Wilcken B. (2007). Newborn screening for cystic fibrosis: techniques and strategies. J Inherit Metab Dis. 30(4):537-43. PMID: 17505915

Wilson DM, & Frane J. (2005). A brief review of the use and utility of growth hormone stimulation testing in the NCGS: Do we need to do provocative GH testing?. Growth hormone & IGF research. 15:21-25.

Scientific / Research References

Information about CF genes from OMIM reference database:
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421 (Links to an external site.)Links to an external site.

A useful description of the relationship between CF genotype and phenotype at the US Center for Disease Control website (Links to an external site.)Links to an external site.

UK CF gene therapy research:
http://www.cfgenetherapy.org.uk/ (Links to an external site.)Links to an external site.

Bienvenu T, Cartault F, Lesure F, Renouil M, Beldjord C, Kaplan JC. (1996). A splicing mutation in intron 16 of the cystic fibrosis transmembrane conductance regulator gene, associated with severe disease, is common on Reunion Island. Hum Hered. 46(3):168-71. PMID: 8860012

De Lisle RC, Mueller R, Boyd M. (2011). Impaired mucosal barrier function in the small intestine of the cystic fibrosis mouse. J Pediatr Gastroenterol Nutr. 53:371-379.

De Lisle RC, Roach E, Jansson K. (2007). Effect of laxative and N-acetylcysteine on mucus accumulation, bacterial load, transit, and inflammation in the barrier function in the cystic fibrosis mouse small intestine. Am J Physiol Gastrointest Liver Physiol Nutr. 293:G577-G584.

Hardin DS & Judy PS. (1997). Effects of growth hormone treatment in children with cystic fibrosis: The National Cooperative Growth Study experience. The Journal of Pediatrics. 131.1: S65-S69.

Moskowitz SM, Chmeil JF, Sternen DL, Cheng E, Cutting GR. (2008). CFTR-related disorders. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1250/ (Links to an external site.)Links to an external site.

Sugarman EA, Rohlfs EM, Silverman LM, Allitto BA. (2004). CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations. Genetics in Medicine. 6(5):392-9. PMID: 15371903

The Cystic Fibrosis Genotype-Phenotype Consortium. (1993). Correlation between genotype and phenotype in patients with cystic fibrosis. N Engl J Med. 1994;  329(18):1308-13. PMID: 8166795

Young FD, Newbigging S, Choi C et al. (2007). Amelioration of cystic fibrosis intestinal mucosal disease in mice by restoration of mCLCA3. Gastroenterology. 133:1928-1937.

Zielenski J. (2000). Genotype and phenotype in cystic fibrosis. Respiration. 67(2):117-33. Review. PMID: 10773783

Patient resources

Cystic Fibrosis Foundation (http://www.cff.org/ (Links to an external site.)Links to an external site.)

UK Newborn Cystic Fibrosis screening programme (http://www.nhs.uk/conditions/pregnancy-and-baby/pages/newborn-blood-spot-test.aspx (Links to an external site.)Links to an external site.)

US Newborn Cystic Fibrosis screening program (http://www.cff.org/AboutCF/Testing/NewbornScreening/ (Links to an external site.)Links to an external site.)

ACMG CF ACT sheet (http://www.ncbi.nlm.nih.gov/books/NBK55827/ (Links to an external site.)Links to an external site.)

From:.  Nutrition and Nutrition. A Resource for Dietetic Faculty and Practitioners.  Available at:   https://courses.education.jax.org/courses/112/pages/cystic-fibrosis-case-study?module_item_id=2017.  Accessed December 29, 2018.