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Cystic fibrosis(CF)

MedGen UID:
41393
Concept ID:
C0010674
Disease or Syndrome
Synonyms: CF; Mucoviscidosis
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Cystic fibrosis (190905008); CF - Cystic fibrosis (190905008); Fibrocystic disease (190905008); CF (190905008); Mucoviscidosis (190905008)
 
Genes (locations): CFTR (7q31.2); TGFB1 (19q13.2)
OMIM®: 219700
Orphanet: ORPHA586

Disease characteristics

Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include progressive obstructive lung disease with bronchiectasis, frequent hospitalizations for pulmonary disease, pancreatic insufficiency and malnutrition, recurrent sinusitis and bronchitis, and male infertility. Pulmonary disease is the major cause of morbidity and mortality in CF. Meconium ileus occurs at birth in 15%-20% of newborns with CF. More than 95% of males with CF are infertile. Congenital absence of the vas deferens (CAVD) is generally identified during evaluation of infertility or as an incidental finding at the time of a surgical procedure. Hypoplasia or aplasia of the vas deferens and seminal vesicles may occur either bilaterally or unilaterally. Testicular development and function and spermatogenesis are usually normal. [from GeneReviews]
Authors:
Thida Ong  |  Susan G Marshall  |  Barbara A Karczeski, et. al.   view full author information

Additional descriptions

From OMIM
Formerly known as cystic fibrosis of the pancreas, this entity has increasingly been labeled simply 'cystic fibrosis.' Manifestations relate not only to the disruption of exocrine function of the pancreas but also to intestinal glands (meconium ileus), biliary tree (biliary cirrhosis), bronchial glands (chronic bronchopulmonary infection with emphysema), and sweat glands (high sweat electrolyte with depletion in a hot environment). Infertility occurs in males and females. For discussion of a phenotype consisting of bronchiectasis with or without elevated sweat chloride caused by mutation in the genes encoding the 3 subunits of the epithelial sodium channel, see BESC1 (211400).  http://www.omim.org/entry/219700
From GHR
Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The features of the disorder and their severity varies among affected individuals.Mucus is a slippery substance that lubricates and protects the linings of the airways, digestive system, reproductive system, and other organs and tissues. In people with cystic fibrosis, the body produces mucus that is abnormally thick and sticky. This abnormal mucus can clog the airways, leading to severe problems with breathing and bacterial infections in the lungs. These infections cause chronic coughing, wheezing, and inflammation. Over time, mucus buildup and infections result in permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs.Most people with cystic fibrosis also have digestive problems. Some affected babies have meconium ileus, a blockage of the intestine that occurs shortly after birth. Other digestive problems result from a buildup of thick, sticky mucus in the pancreas. The pancreas is an organ that produces insulin (a hormone that helps control blood sugar levels). It also makes enzymes that help digest food. In people with cystic fibrosis, mucus blocks the ducts of the pancreas, reducing the production of insulin and preventing digestive enzymes from reaching the intestines to aid digestion. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight loss. In adolescence or adulthood, a shortage of insulin can cause a form of diabetes known as cystic fibrosis-related diabetes mellitus (CFRDM).Cystic fibrosis used to be considered a fatal disease of childhood. With improved treatments and better ways to manage the disease, many people with cystic fibrosis now live well into adulthood. Adults with cystic fibrosis experience health problems affecting the respiratory, digestive, and reproductive systems. Most men with cystic fibrosis have congenital bilateral absence of the vas deferens (CBAVD), a condition in which the tubes that carry sperm (the vas deferens) are blocked by mucus and do not develop properly. Men with CBAVD are unable to father children (infertile) unless they undergo fertility treatment. Women with cystic fibrosis may experience complications in pregnancy.  https://ghr.nlm.nih.gov/condition/cystic-fibrosis

Clinical features

Hypercalciuria
MedGen UID:
43775
Concept ID:
C0020438
Disease or Syndrome
Excretion of abnormally high level of CALCIUM in the URINE, greater than 4 mg/kg/day.
Male infertility
MedGen UID:
5796
Concept ID:
C0021364
Disease or Syndrome
Infertility is a term doctors use if a man hasn't been able to get a woman pregnant after at least one year of trying. Causes of male infertility include. -Physical problems with the testicles. -Blockages in the ducts that carry sperm. -Hormone problems. -A history of high fevers or mumps. -Genetic disorders. -Lifestyle or environmental factors. About a third of the time, infertility is because of a problem with the man. One third of the time, it is a problem with the woman. Sometimes no cause can be found. If you suspect you are infertile, see your doctor. There are tests that may tell if you have fertility problems. When it is possible to find the cause, treatments may include medicines, surgery, or assisted reproductive technology. Happily, many couples treated for infertility are able to have babies. NIH: National Institute of Child Health and Human Development.
Cor pulmonale
MedGen UID:
18765
Concept ID:
C0034072
Disease or Syndrome
Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.
Failure to thrive
MedGen UID:
115900
Concept ID:
C0231246
Finding
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Primary biliary cirrhosis
MedGen UID:
3035
Concept ID:
C0008312
Disease or Syndrome
Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.
Exocrine pancreatic insufficiency
MedGen UID:
45295
Concept ID:
C0030293
Disease or Syndrome
Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
Rectal prolapse
MedGen UID:
11151
Concept ID:
C0034888
Disease or Syndrome
Protrusion of the rectal mucous membrane through the anus.
Meconium ileus
MedGen UID:
473705
Concept ID:
C2939175
Disease or Syndrome
Obstruction of the intestine due to abnormally thick meconium.
Asthma
MedGen UID:
2109
Concept ID:
C0004096
Disease or Syndrome
Asthma is a chronic disease that affects your airways. Your airways are tubes that carry air in and out of your lungs. If you have asthma, the inside walls of your airways become sore and swollen. That makes them very sensitive, and they may react strongly to things that you are allergic to or find irritating. When your airways react, they get narrower and your lungs get less air. Symptoms of asthma include. -Wheezing. -Coughing, especially early in the morning or at night. -Chest tightness. -Shortness of breath. Not all people who have asthma have these symptoms. Having these symptoms doesn't always mean that you have asthma. Your doctor will diagnose asthma based on lung function tests, your medical history, and a physical exam. You may also have allergy tests. When your asthma symptoms become worse than usual, it's called an asthma attack. Severe asthma attacks may require emergency care, and they can be fatal. Asthma is treated with two kinds of medicines: quick-relief medicines to stop asthma symptoms and long-term control medicines to prevent symptoms. . NIH: National Heart, Lung, and Blood Institute.
Bronchiectasis
MedGen UID:
14234
Concept ID:
C0006267
Disease or Syndrome
Persistent abnormal dilatation of the bronchi.
Chronic lung disease
MedGen UID:
196656
Concept ID:
C0746102
Disease or Syndrome
According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.
Recurrent pulmonary infections
MedGen UID:
349099
Concept ID:
C1859117
Finding
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Recurrent bronchopulmonary infections
MedGen UID:
488990
Concept ID:
C2169795
Finding
An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.
Hypercalciuria
MedGen UID:
43775
Concept ID:
C0020438
Disease or Syndrome
Excretion of abnormally high level of CALCIUM in the URINE, greater than 4 mg/kg/day.
Male infertility
MedGen UID:
5796
Concept ID:
C0021364
Disease or Syndrome
Infertility is a term doctors use if a man hasn't been able to get a woman pregnant after at least one year of trying. Causes of male infertility include. -Physical problems with the testicles. -Blockages in the ducts that carry sperm. -Hormone problems. -A history of high fevers or mumps. -Genetic disorders. -Lifestyle or environmental factors. About a third of the time, infertility is because of a problem with the man. One third of the time, it is a problem with the woman. Sometimes no cause can be found. If you suspect you are infertile, see your doctor. There are tests that may tell if you have fertility problems. When it is possible to find the cause, treatments may include medicines, surgery, or assisted reproductive technology. Happily, many couples treated for infertility are able to have babies. NIH: National Institute of Child Health and Human Development.
Asthma
MedGen UID:
2109
Concept ID:
C0004096
Disease or Syndrome
Asthma is a chronic disease that affects your airways. Your airways are tubes that carry air in and out of your lungs. If you have asthma, the inside walls of your airways become sore and swollen. That makes them very sensitive, and they may react strongly to things that you are allergic to or find irritating. When your airways react, they get narrower and your lungs get less air. Symptoms of asthma include. -Wheezing. -Coughing, especially early in the morning or at night. -Chest tightness. -Shortness of breath. Not all people who have asthma have these symptoms. Having these symptoms doesn't always mean that you have asthma. Your doctor will diagnose asthma based on lung function tests, your medical history, and a physical exam. You may also have allergy tests. When your asthma symptoms become worse than usual, it's called an asthma attack. Severe asthma attacks may require emergency care, and they can be fatal. Asthma is treated with two kinds of medicines: quick-relief medicines to stop asthma symptoms and long-term control medicines to prevent symptoms. . NIH: National Heart, Lung, and Blood Institute.
Recurrent pulmonary infections
MedGen UID:
349099
Concept ID:
C1859117
Finding
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Recurrent bronchopulmonary infections
MedGen UID:
488990
Concept ID:
C2169795
Finding
An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.
Dehydration
MedGen UID:
8273
Concept ID:
C0011175
Disease or Syndrome
When you're dehydrated, your body doesn't have enough fluid to work properly. An average person on an average day needs about 3 quarts of water. But if you're out in the hot sun, you'll need a lot more than that. Most healthy bodies are very good at regulating water. Elderly people, young children and some special cases - like people taking certain medications - need to be a little more careful. Signs of dehydration in adults include. -Being thirsty. -Urinating less often than usual. -Dark-colored urine. -Dry skin. -Feeling tired. -Dizziness and fainting. Signs of dehydration in babies and young children include a dry mouth and tongue, crying without tears, no wet diapers for 3 hours or more, a high fever and being unusually sleepy or drowsy. If you think you're dehydrated, drink small amounts of water over a period of time. Taking too much all at once can overload your stomach and make you throw up. For people exercising in the heat and losing a lot of minerals in sweat, sports drinks can be helpful. Avoid any drinks that have caffeine. .
Hypercalciuria
MedGen UID:
43775
Concept ID:
C0020438
Disease or Syndrome
Excretion of abnormally high level of CALCIUM in the URINE, greater than 4 mg/kg/day.
Elevated sweat chloride
MedGen UID:
347278
Concept ID:
C1856646
Finding
An increased concentration of chloride in the sweat.

Professional guidelines

PubMed

Delatycki MB, Burke J, Christie L, Collins F, Gabbett M, George P, Haan E, Ioannou L, Martin N, McKenzie F, O'Leary P, Scoble-Williams N, Turner G, Massie J; Human Genetics Society of Australasia.
Twin Res Hum Genet 2014 Dec;17(6):578-83. doi: 10.1017/thg.2014.65. PMID: 25431289
Clancy JP, Johnson SG, Yee SW, McDonagh EM, Caudle KE, Klein TE, Cannavo M, Giacomini KM; Clinical Pharmacogenetics Implementation Consortium.
Clin Pharmacol Ther 2014 Jun;95(6):592-7. Epub 2014 Mar 5 doi: 10.1038/clpt.2014.54. PMID: 24598717Free PMC Article
Langfelder-Schwind E, Karczeski B, Strecker MN, Redman J, Sugarman EA, Zaleski C, Brown T, Keiles S, Powers A, Ghate S, Darrah R
J Genet Couns 2014 Feb;23(1):5-15. Epub 2013 Sep 7 doi: 10.1007/s10897-013-9636-9. PMID: 24014130
Centers for Disease Control and Prevention (CDC).
MMWR Recomm Rep 2012 Apr 6;61(RR-2):1-44. PMID: 22475884
American College of Obstetricians and Gynecologists Committee on Genetics.
Obstet Gynecol 2011 Apr;117(4):1028-31. doi: 10.1097/AOG.0b013e31821922c2. PMID: 21422883
Flume PA, Mogayzel PJ Jr, Robinson KA, Rosenblatt RL, Quittell L, Marshall BC; Clinical Practice Guidelines for Pulmonary Therapies Committee.; Cystic Fibrosis Foundation Pulmonary Therapies Committee.
Am J Respir Crit Care Med 2010 Aug 1;182(3):298-306. doi: 10.1164/rccm.201002-0157OC. PMID: 20675678
Sermet-Gaudelus I, Mayell SJ, Southern KW; European Cystic Finrosis Society (ECFS), Neonatal Screening Working Group.
J Cyst Fibros 2010 Sep;9(5):323-9. doi: 10.1016/j.jcf.2010.04.008. PMID: 20605539
Cystic Fibrosis Foundation., Borowitz D, Robinson KA, Rosenfeld M, Davis SD, Sabadosa KA, Spear SL, Michel SH, Parad RB, White TB, Farrell PM, Marshall BC, Accurso FJ
J Pediatr 2009 Dec;155(6 Suppl):S73-93. doi: 10.1016/j.jpeds.2009.09.001. PMID: 19914445
Cystic Fibrosis Foundation., Borowitz D, Parad RB, Sharp JK, Sabadosa KA, Robinson KA, Rock MJ, Farrell PM, Sontag MK, Rosenfeld M, Davis SD, Marshall BC, Accurso FJ
J Pediatr 2009 Dec;155(6 Suppl):S106-16. doi: 10.1016/j.jpeds.2009.09.003. PMID: 19914443
ACOG Committee on Genetics.
Obstet Gynecol 2009 Oct;114(4):950-3. doi: 10.1097/AOG.0b013e3181bd12f4. PMID: 19888064
Gross SJ, Pletcher BA, Monaghan KG; Professional Practice and Guidelines Committee.
Genet Med 2008 Jan;10(1):54-6. doi: 10.1097/GIM.0b013e31815f247c. PMID: 18197057Free PMC Article
Flume PA, O'Sullivan BP, Robinson KA, Goss CH, Mogayzel PJ Jr, Willey-Courand DB, Bujan J, Finder J, Lester M, Quittell L, Rosenblatt R, Vender RL, Hazle L, Sabadosa K, Marshall B; Cystic Fibrosis Foundation, Pulmonary Therapies Committee.
Am J Respir Crit Care Med 2007 Nov 15;176(10):957-69. Epub 2007 Aug 29 doi: 10.1164/rccm.200705-664OC. PMID: 17761616
Langfelder-Schwind E, Kloza E, Sugarman E, Pettersen B, Brown T, Jensen K, Marcus S, Redman J; National Society of Genetic Counselors Subcommittee on Cystic Fibrosis Carrier Testing.
J Genet Couns 2005 Feb;14(1):1-15. doi: 10.1007/s10897-005-1496-5. PMID: 15789152
Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, Palomaki GE, Popovich BW, Pratt VM, Rohlfs EM, Strom CM, Richards CS, Witt DR, Grody WW
Genet Med 2004 Sep-Oct;6(5):387-91. doi: 10.109701.GIM.0000139506.11694.7C. PMID: 15371902Free PMC Article
Richards CS, Bradley LA, Amos J, Allitto B, Grody WW, Maddalena A, McGinnis MJ, Prior TW, Popovich BW, Watson MS, Palomaki GE
Genet Med 2002 Sep-Oct;4(5):379-91. doi: 10.109700125817-200209000-00010. PMID: 12394352
Bethesda (MD): American College of Medical Genetics; 2001-; PMID: 21938795Books & Documents
Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ; Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG. American College of Medical Genetics.
Genet Med 2001 Mar-Apr;3(2):149-54. doi: 10.1097/00125817-200103000-00010. PMID: 11280952

External

DailyMed Drug Label, KALYDECO, 2012

Suggested Reading

PubMed

Wainwright CE, Elborn JS, Ramsey BW, Marigowda G, Huang X, Cipolli M, Colombo C, Davies JC, De Boeck K, Flume PA, Konstan MW, McColley SA, McCoy K, McKone EF, Munck A, Ratjen F, Rowe SM, Waltz D, Boyle MP; TRAFFIC Study Group.; TRANSPORT Study Group.
N Engl J Med 2015 Jul 16;373(3):220-31. Epub 2015 May 17 doi: 10.1056/NEJMoa1409547. PMID: 25981758Free PMC Article
Accurso FJ, Rowe SM, Clancy JP, Boyle MP, Dunitz JM, Durie PR, Sagel SD, Hornick DB, Konstan MW, Donaldson SH, Moss RB, Pilewski JM, Rubenstein RC, Uluer AZ, Aitken ML, Freedman SD, Rose LM, Mayer-Hamblett N, Dong Q, Zha J, Stone AJ, Olson ER, Ordoñez CL, Campbell PW, Ashlock MA, Ramsey BW
N Engl J Med 2010 Nov 18;363(21):1991-2003. doi: 10.1056/NEJMoa0909825. PMID: 21083385Free PMC Article

Recent clinical studies

Etiology

Stephenson AL, Sykes J, Stanojevic S, Quon BS, Marshall BC, Petren K, Ostrenga J, Fink AK, Elbert A, Goss CH
Ann Intern Med 2017 Apr 18;166(8):537-546. Epub 2017 Mar 14 doi: 10.7326/M16-0858. PMID: 28288488Free PMC Article
Miragoli F, Federici S, Ferrari S, Minuti A, Rebecchi A, Bruzzese E, Buccigrossi V, Guarino A, Callegari ML
FEMS Microbiol Ecol 2017 Feb;93(2) Epub 2016 Nov 2 doi: 10.1093/femsec/fiw230. PMID: 27810876Free PMC Article
Milla CE, Ratjen F, Marigowda G, Liu F, Waltz D, Rosenfeld M; VX13-809-011 Part B Investigator Group * .
Am J Respir Crit Care Med 2017 Apr 1;195(7):912-920. doi: 10.1164/rccm.201608-1754OC. PMID: 27805836Free PMC Article
Floto RA, Olivier KN, Saiman L, Daley CL, Herrmann JL, Nick JA, Noone PG, Bilton D, Corris P, Gibson RL, Hempstead SE, Koetz K, Sabadosa KA, Sermet-Gaudelus I, Smyth AR, van Ingen J, Wallace RJ, Winthrop KL, Marshall BC, Haworth CS; US Cystic Fibrosis Foundation and European Cystic Fibrosis Society.
Thorax 2016 Jan;71 Suppl 1:i1-22. doi: 10.1136/thoraxjnl-2015-207360. PMID: 26666259Free PMC Article
Hughes EE, Stevens CF, Saavedra-Matiz CA, Tavakoli NP, Krein LM, Parker A, Zhang Z, Maloney B, Vogel B, DeCelie-Germana J, Kier C, Anbar RD, Berdella MN, Comber PG, Dozor AJ, Goetz DM, Guida L Jr, Kattan M, Ting A, Voter KZ; New York State Cystic Fibrosis Newborn Screening Consortium., van Roey P, Caggana M, Kay DM
Hum Mutat 2016 Feb;37(2):201-8. Epub 2015 Dec 2 doi: 10.1002/humu.22927. PMID: 26538069

Diagnosis

Fajac I, Wainwright CE
Presse Med 2017 Jun;46(6 Pt 2):e165-e175. Epub 2017 May 26 doi: 10.1016/j.lpm.2017.01.024. PMID: 28554723
Averna M, Bavestrello M, Cresta F, Pedrazzi M, De Tullio R, Minicucci L, Sparatore B, Salamino F, Pontremoli S, Melloni E
Arch Biochem Biophys 2016 Aug 15;604:103-12. Epub 2016 Jun 25 doi: 10.1016/j.abb.2016.06.015. PMID: 27349634
Sontag MK, Lee R, Wright D, Freedenberg D, Sagel SD
J Pediatr 2016 Aug;175:150-158.e1. Epub 2016 Apr 27 doi: 10.1016/j.jpeds.2016.03.046. PMID: 27131402
Floto RA, Olivier KN, Saiman L, Daley CL, Herrmann JL, Nick JA, Noone PG, Bilton D, Corris P, Gibson RL, Hempstead SE, Koetz K, Sabadosa KA, Sermet-Gaudelus I, Smyth AR, van Ingen J, Wallace RJ, Winthrop KL, Marshall BC, Haworth CS; US Cystic Fibrosis Foundation and European Cystic Fibrosis Society.
Thorax 2016 Jan;71 Suppl 1:i1-22. doi: 10.1136/thoraxjnl-2015-207360. PMID: 26666259Free PMC Article
Hughes EE, Stevens CF, Saavedra-Matiz CA, Tavakoli NP, Krein LM, Parker A, Zhang Z, Maloney B, Vogel B, DeCelie-Germana J, Kier C, Anbar RD, Berdella MN, Comber PG, Dozor AJ, Goetz DM, Guida L Jr, Kattan M, Ting A, Voter KZ; New York State Cystic Fibrosis Newborn Screening Consortium., van Roey P, Caggana M, Kay DM
Hum Mutat 2016 Feb;37(2):201-8. Epub 2015 Dec 2 doi: 10.1002/humu.22927. PMID: 26538069

Therapy

Hisert KB, Heltshe SL, Pope C, Jorth P, Wu X, Edwards RM, Radey M, Accurso FJ, Wolter DJ, Cooke G, Adam RJ, Carter S, Grogan B, Launspach JL, Donnelly SC, Gallagher CG, Bruce JE, Stoltz DA, Welsh MJ, Hoffman LR, McKone EF, Singh PK
Am J Respir Crit Care Med 2017 Jun 15;195(12):1617-1628. doi: 10.1164/rccm.201609-1954OC. PMID: 28222269Free PMC Article
Fajac I, De Boeck K
Pharmacol Ther 2017 Feb;170:205-211. Epub 2016 Dec 1 doi: 10.1016/j.pharmthera.2016.11.009. PMID: 27916649
Milla CE, Ratjen F, Marigowda G, Liu F, Waltz D, Rosenfeld M; VX13-809-011 Part B Investigator Group * .
Am J Respir Crit Care Med 2017 Apr 1;195(7):912-920. doi: 10.1164/rccm.201608-1754OC. PMID: 27805836Free PMC Article
Mayer-Hamblett N, Boyle M, VanDevanter D
Thorax 2016 May;71(5):454-61. Epub 2016 Feb 22 doi: 10.1136/thoraxjnl-2015-208123. PMID: 26903594Free PMC Article
Floto RA, Olivier KN, Saiman L, Daley CL, Herrmann JL, Nick JA, Noone PG, Bilton D, Corris P, Gibson RL, Hempstead SE, Koetz K, Sabadosa KA, Sermet-Gaudelus I, Smyth AR, van Ingen J, Wallace RJ, Winthrop KL, Marshall BC, Haworth CS; US Cystic Fibrosis Foundation and European Cystic Fibrosis Society.
Thorax 2016 Jan;71 Suppl 1:i1-22. doi: 10.1136/thoraxjnl-2015-207360. PMID: 26666259Free PMC Article

Prognosis

Stephenson AL, Sykes J, Stanojevic S, Quon BS, Marshall BC, Petren K, Ostrenga J, Fink AK, Elbert A, Goss CH
Ann Intern Med 2017 Apr 18;166(8):537-546. Epub 2017 Mar 14 doi: 10.7326/M16-0858. PMID: 28288488Free PMC Article
Reznikov LR
Chest 2017 May;151(5):1147-1155. Epub 2016 Nov 19 doi: 10.1016/j.chest.2016.11.009. PMID: 27876591Free PMC Article
Milla CE, Ratjen F, Marigowda G, Liu F, Waltz D, Rosenfeld M; VX13-809-011 Part B Investigator Group * .
Am J Respir Crit Care Med 2017 Apr 1;195(7):912-920. doi: 10.1164/rccm.201608-1754OC. PMID: 27805836Free PMC Article
Averna M, Bavestrello M, Cresta F, Pedrazzi M, De Tullio R, Minicucci L, Sparatore B, Salamino F, Pontremoli S, Melloni E
Arch Biochem Biophys 2016 Aug 15;604:103-12. Epub 2016 Jun 25 doi: 10.1016/j.abb.2016.06.015. PMID: 27349634
Sontag MK, Lee R, Wright D, Freedenberg D, Sagel SD
J Pediatr 2016 Aug;175:150-158.e1. Epub 2016 Apr 27 doi: 10.1016/j.jpeds.2016.03.046. PMID: 27131402

Clinical prediction guides

Reznikov LR
Chest 2017 May;151(5):1147-1155. Epub 2016 Nov 19 doi: 10.1016/j.chest.2016.11.009. PMID: 27876591Free PMC Article
Milla CE, Ratjen F, Marigowda G, Liu F, Waltz D, Rosenfeld M; VX13-809-011 Part B Investigator Group * .
Am J Respir Crit Care Med 2017 Apr 1;195(7):912-920. doi: 10.1164/rccm.201608-1754OC. PMID: 27805836Free PMC Article
Yi Y, Norris AW, Wang K, Sun X, Uc A, Moran A, Engelhardt JF, Ode KL
Am J Respir Crit Care Med 2016 Oct 15;194(8):974-980. doi: 10.1164/rccm.201512-2518OC. PMID: 27447840Free PMC Article
Floto RA, Olivier KN, Saiman L, Daley CL, Herrmann JL, Nick JA, Noone PG, Bilton D, Corris P, Gibson RL, Hempstead SE, Koetz K, Sabadosa KA, Sermet-Gaudelus I, Smyth AR, van Ingen J, Wallace RJ, Winthrop KL, Marshall BC, Haworth CS; US Cystic Fibrosis Foundation and European Cystic Fibrosis Society.
Thorax 2016 Jan;71 Suppl 1:i1-22. doi: 10.1136/thoraxjnl-2015-207360. PMID: 26666259Free PMC Article
Heltshe SL, Mayer-Hamblett N, Burns JL, Khan U, Baines A, Ramsey BW, Rowe SM; GOAL (the G551D Observation-AL) Investigators of the Cystic Fibrosis Foundation Therapeutics Development Network.
Clin Infect Dis 2015 Mar 1;60(5):703-12. Epub 2014 Nov 25 doi: 10.1093/cid/ciu944. PMID: 25425629Free PMC Article

Recent systematic reviews

Morrison L, Innes S
Cochrane Database Syst Rev 2017 May 4;5:CD006842. doi: 10.1002/14651858.CD006842.pub4. PMID: 28471492
Smyth RL, Rayner O
Cochrane Database Syst Rev 2017 May 4;5:CD000406. doi: 10.1002/14651858.CD000406.pub5. PMID: 28470972
Langton Hewer SC, Smyth AR
Cochrane Database Syst Rev 2017 Apr 25;4:CD004197. doi: 10.1002/14651858.CD004197.pub5. PMID: 28440853
Mayer-Hamblett N, Boyle M, VanDevanter D
Thorax 2016 May;71(5):454-61. Epub 2016 Feb 22 doi: 10.1136/thoraxjnl-2015-208123. PMID: 26903594Free PMC Article
Floto RA, Olivier KN, Saiman L, Daley CL, Herrmann JL, Nick JA, Noone PG, Bilton D, Corris P, Gibson RL, Hempstead SE, Koetz K, Sabadosa KA, Sermet-Gaudelus I, Smyth AR, van Ingen J, Wallace RJ, Winthrop KL, Marshall BC, Haworth CS; US Cystic Fibrosis Foundation and European Cystic Fibrosis Society.
Thorax 2016 Jan;71 Suppl 1:i1-22. doi: 10.1136/thoraxjnl-2015-207360. PMID: 26666259Free PMC Article

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