Abstract
Cystic fibrosis is a multisystem autosomal recessive disorder caused by abnormal function of cystic fibrosis transmembrane conductance regulator (CFTR), a protein on the cell surface which regulates chloride transport. The primary manifestations are lung disease leading to respiratory compromise and pancreatic insufficiency, resulting in failure to thrive. Diagnosis is made by sweat chloride testing in combination with genetic testing, and most new cases are now identified by newborn screening. New treatments have greatly increased the life expectancy of patients with the disease, and now more than half of the CF patients in the United States are adults. CFTR modulating medications are changing the trajectory of the disease, as they are highly effective at restoring CFTR function.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989;245(4922):1066–73.
The Clinical and Functional TRanslation of CFTR (CFTR2) ©Copyright 2011 US CF Foundation, Johns Hopkins University, The Hospital for Sick Children. https://cftr2.org. Accessed 17 Dec 2018 and 23 Jan 2019.
Cystic Fibrosis Foundation Patient Registry 2017 Annual Data Report. Bethesda, ©2018 Cystic Fibrosis Foundation.
Strom CM, Crossley B, et al. Cystic fibrosis testing 8 years on: lesson learned from carrier screening and sequencing analysis. Genet Med. 2011;13(2):166–72.
The Canadian Cystic Fibrosis Registry 2017 Annual Data Report. Toronto. https://www.cysticfibrosis.ca/uploads/Registry%20Report%202017/2017%20Registry%20Annual%20Data%20Report.pdf. Accessed 23 Jan 2019.
Cystic Fibrosis Canada. Toronto. https://www.cysticfibrosis.ca/about-cf. Accessed 11 Feb 2019.
European Cystic Fibrosis Society. https://www.ecfs.eu/sites/default/files/general-content-files/working-groups/ecfs-patient-registry/CF1006_At_A_Glance_Guide_2016.pdf. Accessed 17 Dec 2018.
Cystic Fibrosis Australia. https://www.cysticfibrosis.org.au/getmedia/a3b28200-caeb-4c5a-ad15-98c71a8c7dc8/ACFDR-2016-Annual-Report-Final-Copy-Single-Page-Version.pdf.aspx. Accessed 17 Dec 2018.
Castellani C, Macek M Jr, Cassiman JJ, Duff A, Massie J, ten Kate LP, et al. Benchmarks for cystic fibrosis carrier screening: a European consensus document. J Cyst Fibros. 2010;9(3):165–78.
Farrell PM. The prevalence of cystic fibrosis in the European Union. J Cyst Fibros. 2008;7(5):450–3.
Cystic Fibrosis Foundation. https://www.cff.org/About-Us/About-the-Cystic-Fibrosis-Foundation/Our-History/. Accessed 26 Feb 2019.
Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N, et al. Diagnosis of cystic fibrosis: consensus guidelines from the Cystic Fibrosis Foundation. J Pediatr. 2017;181s:S4–S15.e1.
Gibson LE, Cooke RE. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics. 1959;23(3):545–9.
Grosse SD, Boyle CA, Botkin JR, Comeau AM, Kharrazi M, Rosenfeld M, et al. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep. 2004;53(Rr-13):1–36.
Rock MJ. Newborn screening for cystic fibrosis. Clin Chest Med. 2007;28:297–305.
Farrell PM, White TB, Howenstine MS, Munck A, Parad RB, Rosenfeld M, et al. Diagnosis of cystic fibrosis in screened populations. J Pediatr. 2017;181s:S33–S44.e2.
Villanueva G, Marceniuk G, Murphy MS, Walshaw M, Cosulich R. Diagnosis and management of cystic fibrosis: summary of NICE guidance. BMJ. 2017;359:j4574.
Massie RJH, Curnow L, Glazner J, Armstrong DS, Francis I. Lessons learned from 20 years of newborn screening for cystic fibrosis. Med J Aust. 2012;196(1):67–70. https://www.mja.com.au/journal/2012/196/1/lessons-learned-20-years-newborn-screening-cystic-fibrosis. Accessed 15 Feb 2019.
Ren CL, Borowitz DS, Gonska T, Howenstine MS, Levy H, Massie J, et al. Cystic fibrosis transmembrane conductance regulator-related metabolic syndrome and cystic fibrosis screen positive, inconclusive diagnosis. J Pediatr. 2017;181s:S45–S51.e1.
Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, Girodon E, et al. Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros. 2011;10(Suppl 2):S86–102.
Paranjape Shruti M, Mogayzel Jr Peter J. Cystic fibrosis. Ped in Rev. 2014;35(5):194–205.
Mott LS, et al. Distribution of early structural lung changes due to cystic fibrosis detected with chest computed tomography. J Pediatr. 2013;163(1):243–8.
Borowitz D, Robinson KA, Rosenfeld M, et al. Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. J Pediatr. 2009 Dec;155(6 Suppl):S73–93.
Leung DH, Narkewicz MR. Cystic fibrosis-related cirrhosis. J Cyst Fibros. 2017;16(Suppl 2):S50–s61.
Moran A, Pillay K, Becker DJ, Acerini CL. ISPAD Clinical Practice Consensus Guidelines 2014. Management of cystic fibrosis-related diabetes in children and adolescents. Pediatr Diabetes. 2014;15(Suppl 20):65–76.
Quittner AL, Goldbeck L, Abbott J, Duff A, Lambrecht P, Sole A, et al. Prevalence of depression and anxiety in patients with cystic fibrosis and parent caregivers: results of The International Depression Epidemiological Study across nine countries. Thorax. 2014;69(12):1090–7.
Quittner AL, Abbott J, Georgiopoulos AM, Goldbeck L, Smith B, Hempstead SE, et al. International Committee on Mental Health in Cystic Fibrosis: Cystic Fibrosis Foundation and European Cystic Fibrosis Society consensus statements for screening and treating depression and anxiety. Thorax. 2016;71(1):26–34.
Hadjiliadis D, Khoruts A, Zauber AG, Hempstead SE, Maisonneuve P, Lowenfels AB. Cystic fibrosis colorectal cancer screening consensus recommendations. Gastroenterology. 2018;154(3):736–45.e14.
Ahmad A, Ahmed A, Patrizio P. Cystic fibrosis and fertility. Curr Opin Obstet Gynecol. 2013;25(3):167–72.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2020 Springer Nature Switzerland AG
About this chapter
Cite this chapter
Sollo, N., Ali, M. (2020). CF Basics. In: Lewis, MD, FAAFP, D. (eds) Cystic Fibrosis in Primary Care . Springer, Cham. https://doi.org/10.1007/978-3-030-25909-9_2
Download citation
DOI: https://doi.org/10.1007/978-3-030-25909-9_2
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-030-25908-2
Online ISBN: 978-3-030-25909-9
eBook Packages: MedicineMedicine (R0)