Life expectancy between 42 and 50 years (developed world)[5]
Frequency
1 out of 3,000 (Northern European)[1]
Cystic fibrosis (CF) is a genetic disorder inherited in an autosomal recessive manner that impairs the normal clearance of mucus from the lungs, which facilitates the colonization and infection of the lungs by bacteria, notably Staphylococcus aureus.[6] CF is a rare[7][8] genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine.[1][9] The hallmark feature of CF is the accumulation of thick mucus in different organs. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections.[1] Other signs and symptoms may include sinus infections, poor growth, fatty stool, clubbing of the fingers and toes, and infertility in most males.[1] Different people may have different degrees of symptoms.[1]
Cystic fibrosis is inherited in an autosomal recessive manner.[1] It is caused by the presence of mutations in both copies (alleles) of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein.[1] Those with a single working copy are carriers and otherwise mostly healthy.[3] CFTR is involved in the production of sweat, digestive fluids, and mucus.[10] When the CFTR is not functional, secretions that are usually thin instead become thick.[11] The condition is diagnosed by a sweat test and genetic testing.[1] The sweat test measures sodium concentration, as people with cystic fibrosis have abnormally salty sweat, which can often be tasted by parents kissing their children. Screening of infants at birth takes place in some areas of the world.[1]
There is no known cure for cystic fibrosis.[3] Lung infections are treated with antibiotics which may be given intravenously, inhaled, or by mouth.[1] Sometimes, the antibiotic azithromycin is used long-term.[1] Inhaled hypertonic saline and salbutamol may also be useful.[1] Lung transplantation may be an option if lung function continues to worsen.[1] Pancreatic enzyme replacement and fat-soluble vitamin supplementation are important, especially in the young.[1] Airway clearance techniques such as chest physiotherapy may have some short-term benefit, but long-term effects are unclear.[12] The average life expectancy is between 42 and 50 years in the developed world,[5][13] with a median of 40.7 years.[14] Lung problems are responsible for death in 70% of people with cystic fibrosis.[1]
CF is most common among people of Northern European ancestry, for whom it affects about 1 out of 3,000 newborns,[1] and among which around 1 out of 25 people is a carrier.[3] It is least common in Africans and Asians, though it does occur in all races.[1] It was first recognized as a specific disease by Dorothy Andersen in 1938, with descriptions that fit the condition occurring at least as far back as 1595.[9] The name "cystic fibrosis" refers to the characteristic fibrosis and cysts that form within the pancreas.[9][15]
^ abOng T, Ramsey BW (September 2015). "Update in Cystic Fibrosis 2014". American Journal of Respiratory and Critical Care Medicine. 192 (6): 669–675. doi:10.1164/rccm.201504-0656UP. PMID 26371812.
^Xu X, Zhang X, Zhang G, Abbasi Tadi D (March 2024). "Prevalence of antibiotic resistance of Staphylococcus aureus in cystic fibrosis infection: a systematic review and meta-analysis". Journal of Global Antimicrobial Resistance. 36: 419–425. doi:10.1016/j.jgar.2023.05.006. PMID 37211214.
^Sencen L. "Cystic Fibrosis". NORD (National Organization for Rare Disorders). Retrieved 29 July 2022.
^"Orphanet: Cystic fibrosis". www.orpha.net. Retrieved 29 July 2022.
^ abcHodson M, Geddes D, Bush A, eds. (2012). Cystic Fibrosis (3rd ed.). London: Hodder Arnold. p. 3. ISBN 978-1-4441-1369-3. Archived from the original on 8 September 2017.
^Buckingham L (2012). Molecular Diagnostics: Fundamentals, Methods and Clinical Applications (2nd ed.). Philadelphia: F.A. Davis Co. p. 351. ISBN 978-0-8036-2975-2. Archived from the original on 8 September 2017.
^Warnock L, Gates A (April 2023). "Airway clearance techniques compared to no airway clearance techniques for cystic fibrosis". The Cochrane Database of Systematic Reviews. 2023 (4): CD001401. doi:10.1002/14651858.CD001401.pub4. PMC 10091803. PMID 37042825.
^Nazareth D, Walshaw M (October 2013). "Coming of age in cystic fibrosis - transition from paediatric to adult care". Clinical Medicine. 13 (5): 482–486. doi:10.7861/clinmedicine.13-5-482. PMC 4953800. PMID 24115706.
^Agrawal A, Agarwal A, Mehta D, Sikachi RR, Du D, Wang J (August 2017). "Nationwide trends of hospitalizations for cystic fibrosis in the United States from 2003 to 2013". Intractable & Rare Diseases Research. 6 (3): 191–198. doi:10.5582/irdr.2017.01043. PMC 5608929. PMID 28944141.
^Andersen DH (1938). "Cystic fibrosis of the pancreas and its relation to celiac disease: a clinical and pathological study". Am. J. Dis. Child.56 (2): 344–99. doi:10.1001/archpedi.1938.01980140114013.
as 1595. The name "cysticfibrosis" refers to the characteristic fibrosis and cysts that form within the pancreas. Cysticfibrosis typically manifests...
Cysticfibrosis transmembrane conductance regulator (CFTR) is a membrane protein and anion channel in vertebrates that is encoded by the CFTR gene. Geneticist...
The CysticFibrosis Trust (stylised as CysticFibrosis) is a UK-based national charity founded in 1964, dealing with all aspects of cysticfibrosis (CF)...
Wineland, who suffered from cysticfibrosis. Haley Lu Richardson and Cole Sprouse play two young patients with cysticfibrosis who try to have a relationship...
appearance of cysts in the pancreas", cysticfibrosis is an example of a genetic disorder whose name is related to fibrosis of the cystic duct (which serves...
Underrepresented populations, especially black and hispanic populations with cysticfibrosis are often not successfully diagnosed. This is in part due to the minimal...
often occurs during existing diseases or conditions – most notably cysticfibrosis and traumatic burns. It generally affects the immunocompromised but...
disorder cysticfibrosis. Cysticfibrosis eventually results in severe bronchiectasis in nearly all cases. The cause in 10–50% of those without cystic fibrosis...
ivacaftor for people with cysticfibrosis ages 12 and older who have two copies of the F508del mutation in the cysticfibrosis transmembrane conductance...
son. She supports several charitable causes, mostly ones related to cysticfibrosis, a condition from which her niece suffers, and for her service to those...
the Bethesda-based CysticFibrosis Foundation (CFF), wanting to take more direct action toward finding treatments for cysticfibrosis (CF) beyond its traditional...
destruction in cysticfibrosis. With such a strong inflammatory response and an elevated number of immune cells, lungs of cysticfibrosis patients cannot...
nosocomial infections in immunocompromised patients, such as those with cysticfibrosis or chronic granulomatous disease. The quorum sensing systems CepIR...
doi:10.1192/bjp.178.41.s134. PMID 11388952. Wood Klinger, K. (1983). "Cysticfibrosis in the Ohio Amish: Gene frequency and founder effect". Human Genetics...
CysticFibrosis Canada is one of national charitable but not-for-profit corporation established in 1960. CysticFibrosis Canada's mandate is to help individuals...
mammalian cells of the lungs which P. aeruginosa has infected during cysticfibrosis. Since pyocyanin is a zwitterion at blood pH, it is easily able to...
environment of cysticfibrosis patients' weakened respiratory immune system against bacterial infection. Symptoms of cysticfibrosis include an inability...
The following notable people have or had cysticfibrosis. "'Real World: San Diego' Alum Frankie Abernathy Dead At 25". MTV. June 12, 2007. Retrieved June...
decreased lactoferrin activity is observed in patients with cysticfibrosis. In cysticfibrosis, antibiotic susceptibility may be modified by lactoferrin...
sinuses. They occur more commonly among people who have allergies, cysticfibrosis, aspirin sensitivity, or certain infections. The polyp itself represents...
digestive juices, and mucus. The name cysticfibrosis refers to the characteristic 'fibrosis' (tissue scarring) and cyst formation within the pancreas, causing...
Ivacaftor is a medication used to treat cysticfibrosis in people with certain mutations in the cysticfibrosis transmembrane conductance regulator (CFTR)...
treatment for cysticfibrosis patients by significantly improving their quality of life and extending their life expectancies. Now, cysticfibrosis patients...
artist. Tinsley began writing for The Irish Times on the state of cysticfibrosis care in Ireland in 2005 when they were 18. Their work launched a decade-long...
help breakdown food as a part of saliva composition. Patients with cysticfibrosis (CF) have an 85% chance of additionally experiencing the effects of...
California in the fall of 2007 to study film. Yelchin was born with cysticfibrosis, though the details of his medical condition were revealed posthumously...