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Cystic fibrosis(CF)

MedGen UID:
41393
Concept ID:
C0010674
Disease or Syndrome
Synonyms: CF; Classic Cystic Fibrosis; Cystic fibrosis of pancreas; Fibrocystic Disease of Pancreas; Mucoviscidosis
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Cystic fibrosis (190905008); CF - Cystic fibrosis (190905008); Fibrocystic disease (190905008); CF (190905008); Mucoviscidosis (190905008)
 
Genes: TGFB1; CFTR
Cytogenetic locations: 19q13.2; 7q31.2
OMIM: 219700

Disease characteristics

Excerpted from the GeneReview: CFTR-Related Disorders
CFTR-related disorders include cystic fibrosis (CF) and congenital absence of the vas deferens (CAVD). Cystic fibrosis affects epithelia of the respiratory tract, exocrine pancreas, intestine, male genital tract, hepatobiliary system, and exocrine sweat glands, resulting in complex multisystem disease. Pulmonary disease is the major cause of morbidity and mortality in CF. Affected individuals have lower airway inflammation and chronic endobronchial infection, progressing to end-stage lung disease characterized by extensive airway damage (bronchiectasis, cysts, and abscesses) and fibrosis of lung parenchyma. Meconium ileus occurs at birth in 15%-20% of newborns with CF. Pancreatic insufficiency with malabsorption occurs in the great majority of individuals with CF. More than 95% of males with CF are infertile as a result of azoospermia caused by absent, atrophic, or fibrotic Wolffian duct structures. CAVD occurs in men without pulmonary or gastrointestinal manifestations of CF. Affected men have azoospermia and are thus infertile. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Samuel M Moskowitz  |  James F Chmiel  |  Darci L Sternen, 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.  http://ghr.nlm.nih.gov/condition/cystic-fibrosis

Clinical features

Abnormality of the pancreas
MedGen UID:
427891
Concept ID:
CN001576
Finding
An abnormality of the `pancreas` (FMA:7198).
Exocrine pancreatic insufficiency
MedGen UID:
504939
Concept ID:
CN001582
Finding
Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
Rectal prolapse
MedGen UID:
505063
Concept ID:
CN001840
Finding
Protrusion of the rectal mucous membrane through the anus.
Hepatomegaly
MedGen UID:
505165
Concept ID:
CN002031
Finding
Abnormally `increased size` (PATO:0000586) of the `liver` (FMA:7197).
Biliary cirrhosis
MedGen UID:
505295
Concept ID:
CN002375
Finding
Progressive destruction of the small-to-medium bile ducts of the `intrahepatic biliary tree` (FMA:68016), which leads to progressive cholestasis and often end-stage liver disease.
Meconium ileus
MedGen UID:
446599
Concept ID:
CN003899
Finding
Obstruction of the intestine due to abnormally thick meconium.
Cor pulmonale
MedGen UID:
504890
Concept ID:
CN001501
Finding
Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.
Asthma
MedGen UID:
505101
Concept ID:
CN001900
Finding
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Bronchiectasis
MedGen UID:
505109
Concept ID:
CN001911
Finding
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Pulmonary fibrosis
MedGen UID:
505156
Concept ID:
CN002000
Finding
Replacement of normal lung tissues are progressively replaced by fibroblasts and collagen.
Chronic lung disease
MedGen UID:
505923
Concept ID:
CN005686
Finding
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 pneumonia
MedGen UID:
505924
Concept ID:
CN005690
Finding
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Asthma
MedGen UID:
505101
Concept ID:
CN001900
Finding
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Recurrent pneumonia
MedGen UID:
505924
Concept ID:
CN005690
Finding
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.

Professional guidelines

PubMed

Clancy JP, Johnson SG, Yee SW, McDonagh EM, Caudle KE, Klein TE, Cannavo M, Giacomini KM
Clin Pharmacol Ther 2014 Jun;95(6):592-7. Epub 2014 Mar 5 doi: 10.1038/clpt.2014.54. [Epub ahead of print] PMID: 24598717Free PMC Article
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
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: 10.109700125817-200103000-00010. PMID: 11280952

External

DailyMed Drug Label, 2012

Suggested Reading

PubMed

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

Rowe SM, Heltshe SL, Gonska T, Donaldson SH, Borowitz D, Gelfond D, Sagel SD, Khan U, Mayer-Hamblett N, Van Dalfsen JM, Joseloff E, Ramsey BW; GOAL Investigators of the Cystic Fibrosis Foundation Therapeutics Development Network
Am J Respir Crit Care Med 2014 Jul 15;190(2):175-84. doi: 10.1164/rccm.201404-0703OC. PMID: 24927234
Bonadia LC, de Lima Marson FA, Ribeiro JD, Paschoal IA, Pereira MC, Ribeiro AF, Bertuzzo CS
Gene 2014 May 1;540(2):183-90. Epub 2014 Feb 26 doi: 10.1016/j.gene.2014.02.040. [Epub ahead of print] PMID: 24583165
Soave D, Miller MR, Keenan K, Li W, Gong J, Ip W, Accurso F, Sun L, Rommens JM, Sontag M, Durie PR, Strug LJ
Diabetes 2014 Jun;63(6):2114-9. Epub 2014 Feb 18 doi: 10.2337/db13-1464. [Epub ahead of print] PMID: 24550193Free PMC Article
Berkhout MC, van Rooden CJ, Aalbers RC, el Bouazzaoui LH, Fokkens WJ, Rijntjes E, Heijerman HG
Laryngoscope 2014 Jul;124(7):1682-6. Epub 2014 Feb 6 doi: 10.1002/lary.24575. [Epub ahead of print] PMID: 24374715
Sommerburg O, Krulisova V, Hammermann J, Lindner M, Stahl M, Muckenthaler M, Kohlmueller D, Happich M, Kulozik AE, Votava F, Balascakova M, Skalicka V, Stopsack M, Gahr M, Macek M Jr, Mall MA, Hoffmann GF
J Cyst Fibros 2014 Jan;13(1):15-23. Epub 2013 Jul 25 doi: 10.1016/j.jcf.2013.06.003. [Epub ahead of print] PMID: 23891278

Diagnosis

Rowe SM, Heltshe SL, Gonska T, Donaldson SH, Borowitz D, Gelfond D, Sagel SD, Khan U, Mayer-Hamblett N, Van Dalfsen JM, Joseloff E, Ramsey BW; GOAL Investigators of the Cystic Fibrosis Foundation Therapeutics Development Network
Am J Respir Crit Care Med 2014 Jul 15;190(2):175-84. doi: 10.1164/rccm.201404-0703OC. PMID: 24927234
Bonadia LC, de Lima Marson FA, Ribeiro JD, Paschoal IA, Pereira MC, Ribeiro AF, Bertuzzo CS
Gene 2014 May 1;540(2):183-90. Epub 2014 Feb 26 doi: 10.1016/j.gene.2014.02.040. [Epub ahead of print] PMID: 24583165
Soave D, Miller MR, Keenan K, Li W, Gong J, Ip W, Accurso F, Sun L, Rommens JM, Sontag M, Durie PR, Strug LJ
Diabetes 2014 Jun;63(6):2114-9. Epub 2014 Feb 18 doi: 10.2337/db13-1464. [Epub ahead of print] PMID: 24550193Free PMC Article
Ooi CY, Dupuis A, Ellis L, Jarvi K, Martin S, Ray PN, Steele L, Kortan P, Gonska T, Dorfman R, Solomon M, Zielenski J, Corey M, Tullis E, Durie P
Thorax 2014 Mar;69(3):254-60. Epub 2013 Oct 21 doi: 10.1136/thoraxjnl-2013-203832. [Epub ahead of print] PMID: 24149827
Sommerburg O, Krulisova V, Hammermann J, Lindner M, Stahl M, Muckenthaler M, Kohlmueller D, Happich M, Kulozik AE, Votava F, Balascakova M, Skalicka V, Stopsack M, Gahr M, Macek M Jr, Mall MA, Hoffmann GF
J Cyst Fibros 2014 Jan;13(1):15-23. Epub 2013 Jul 25 doi: 10.1016/j.jcf.2013.06.003. [Epub ahead of print] PMID: 23891278

Therapy

Rowe SM, Heltshe SL, Gonska T, Donaldson SH, Borowitz D, Gelfond D, Sagel SD, Khan U, Mayer-Hamblett N, Van Dalfsen JM, Joseloff E, Ramsey BW; GOAL Investigators of the Cystic Fibrosis Foundation Therapeutics Development Network
Am J Respir Crit Care Med 2014 Jul 15;190(2):175-84. doi: 10.1164/rccm.201404-0703OC. PMID: 24927234
Soave D, Miller MR, Keenan K, Li W, Gong J, Ip W, Accurso F, Sun L, Rommens JM, Sontag M, Durie PR, Strug LJ
Diabetes 2014 Jun;63(6):2114-9. Epub 2014 Feb 18 doi: 10.2337/db13-1464. [Epub ahead of print] PMID: 24550193Free PMC Article
Sommerburg O, Krulisova V, Hammermann J, Lindner M, Stahl M, Muckenthaler M, Kohlmueller D, Happich M, Kulozik AE, Votava F, Balascakova M, Skalicka V, Stopsack M, Gahr M, Macek M Jr, Mall MA, Hoffmann GF
J Cyst Fibros 2014 Jan;13(1):15-23. Epub 2013 Jul 25 doi: 10.1016/j.jcf.2013.06.003. [Epub ahead of print] PMID: 23891278
Morgan WJ, Wagener JS, Yegin A, Pasta DJ, Millar SJ, Konstan MW; Scientific Advisory Group, investigators; coordinators of the Epidemiologic Study of Cystic Fibrosis
J Pediatr 2013 Oct;163(4):1152-7.e2. Epub 2013 Jun 27 doi: 10.1016/j.jpeds.2013.05.013. [Epub ahead of print] PMID: 23810128Free PMC Article
Villella VR, Esposito S, Maiuri MC, Raia V, Kroemer G, Maiuri L
Autophagy 2013 Sep;9(9):1431-4. Epub 2013 Jun 25 doi: 10.4161/auto.25517. [Epub ahead of print] PMID: 23800975

Prognosis

Pereira LC, Moreira EA, Bennemann GD, Moreno YM, Buss Zda S, Barbosa E, Ludwig-Neto N, Wilhelm Filho D, Fröde TS
Life Sci 2014 Jul 25;109(1):30-6. Epub 2014 Jun 12 doi: 10.1016/j.lfs.2014.06.002. [Epub ahead of print] PMID: 24931908
Rowe SM, Heltshe SL, Gonska T, Donaldson SH, Borowitz D, Gelfond D, Sagel SD, Khan U, Mayer-Hamblett N, Van Dalfsen JM, Joseloff E, Ramsey BW; GOAL Investigators of the Cystic Fibrosis Foundation Therapeutics Development Network
Am J Respir Crit Care Med 2014 Jul 15;190(2):175-84. doi: 10.1164/rccm.201404-0703OC. PMID: 24927234
Soave D, Miller MR, Keenan K, Li W, Gong J, Ip W, Accurso F, Sun L, Rommens JM, Sontag M, Durie PR, Strug LJ
Diabetes 2014 Jun;63(6):2114-9. Epub 2014 Feb 18 doi: 10.2337/db13-1464. [Epub ahead of print] PMID: 24550193Free PMC Article
Berkhout MC, van Rooden CJ, Aalbers RC, el Bouazzaoui LH, Fokkens WJ, Rijntjes E, Heijerman HG
Laryngoscope 2014 Jul;124(7):1682-6. Epub 2014 Feb 6 doi: 10.1002/lary.24575. [Epub ahead of print] PMID: 24374715
Ooi CY, Dupuis A, Ellis L, Jarvi K, Martin S, Ray PN, Steele L, Kortan P, Gonska T, Dorfman R, Solomon M, Zielenski J, Corey M, Tullis E, Durie P
Thorax 2014 Mar;69(3):254-60. Epub 2013 Oct 21 doi: 10.1136/thoraxjnl-2013-203832. [Epub ahead of print] PMID: 24149827

Clinical prediction guides

Rowe SM, Heltshe SL, Gonska T, Donaldson SH, Borowitz D, Gelfond D, Sagel SD, Khan U, Mayer-Hamblett N, Van Dalfsen JM, Joseloff E, Ramsey BW; GOAL Investigators of the Cystic Fibrosis Foundation Therapeutics Development Network
Am J Respir Crit Care Med 2014 Jul 15;190(2):175-84. doi: 10.1164/rccm.201404-0703OC. PMID: 24927234
Bonadia LC, de Lima Marson FA, Ribeiro JD, Paschoal IA, Pereira MC, Ribeiro AF, Bertuzzo CS
Gene 2014 May 1;540(2):183-90. Epub 2014 Feb 26 doi: 10.1016/j.gene.2014.02.040. [Epub ahead of print] PMID: 24583165
Soave D, Miller MR, Keenan K, Li W, Gong J, Ip W, Accurso F, Sun L, Rommens JM, Sontag M, Durie PR, Strug LJ
Diabetes 2014 Jun;63(6):2114-9. Epub 2014 Feb 18 doi: 10.2337/db13-1464. [Epub ahead of print] PMID: 24550193Free PMC Article
Berkhout MC, van Rooden CJ, Aalbers RC, el Bouazzaoui LH, Fokkens WJ, Rijntjes E, Heijerman HG
Laryngoscope 2014 Jul;124(7):1682-6. Epub 2014 Feb 6 doi: 10.1002/lary.24575. [Epub ahead of print] PMID: 24374715
Ooi CY, Dupuis A, Ellis L, Jarvi K, Martin S, Ray PN, Steele L, Kortan P, Gonska T, Dorfman R, Solomon M, Zielenski J, Corey M, Tullis E, Durie P
Thorax 2014 Mar;69(3):254-60. Epub 2013 Oct 21 doi: 10.1136/thoraxjnl-2013-203832. [Epub ahead of print] PMID: 24149827

Recent systematic reviews

Jain M, Goss CH
Am J Respir Crit Care Med 2014 May 15;189(10):1181-6. doi: 10.1164/rccm.201402-0203UP. PMID: 24832742
Cox NS, Alison JA, Holland AE
Cochrane Database Syst Rev 2013 Dec 13;12:CD009448. doi: 10.1002/14651858.CD009448.pub2. PMID: 24338214
Lee TW, Southern KW
Cochrane Database Syst Rev 2013 Nov 26;11:CD005599. doi: 10.1002/14651858.CD005599.pub4. PMID: 24282073
Paccou J, Fardellone P, Cortet B
Curr Opin Pulm Med 2013 Nov;19(6):681-6. doi: 10.1097/MCP.0b013e3283659e35. PMID: 24060979
Kotha K, Clancy JP
Ther Adv Respir Dis 2013 Oct;7(5):288-96. Epub 2013 Sep 3 doi: 10.1177/1753465813502115. [Epub ahead of print] PMID: 24004658

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