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| '''For patient information click [[{{PAGENAME}} (patient information)|here]]''' | | '''For patient information click [[{{PAGENAME}} (patient information)|here]]''' |
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| {{Infobox_Disease |
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| | Name = Cystic fibrosis
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| | Image = Cystic fibrosis.jpg
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| | Caption = Lung: Gross; Cystic fibrosis <br> <small> [http://www.peir.net Image courtesy of Professor Peter Anderson DVM PhD and published with permission © PEIR, University of Alabama at Birmingham, Department of Pathology] </small>
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| | DiseasesDB = 3347
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| | ICD10 = {{ICD10|E|84||e|70}}
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| | ICD9 = {{ICD9|277}}
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| | ICDO =
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| | OMIM = 219700
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| | MedlinePlus = 000107
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| | eMedicineSubj =
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| | eMedicineTopic =
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| | MeshID = D003550
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| }}
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| {{Cystic fibrosis}} | | {{Cystic fibrosis}} |
| {{CMG}}; '''Associate Editor(s)-In-Chief:''' {{CZ}} | | {{CMG}}; '''Associate Editor(s)-In-Chief:''' {{SHH}} |
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| | {{SK}} CF; mucoviscoidosis; mucoviscidosis |
| ==[[Cystic fibrosis overview|Overview]]== | | ==[[Cystic fibrosis overview|Overview]]== |
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| ==[[Cystic fibrosis historical perspective|Historical Perspective]]== | | ==[[Cystic fibrosis historical perspective|Historical Perspective]]== |
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| | ==[[Cystic fibrosis classification|Classification]]== |
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| ==[[Cystic fibrosis pathophysiology|Pathophysiology]]== | | ==[[Cystic fibrosis pathophysiology|Pathophysiology]]== |
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| ==[[Cystic fibrosis epidemiology and demographics|Epidemiology & Demographics]]== | | ==[[Cystic fibrosis causes|Causes]]== |
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| | ==[[Cystic fibrosis differential diagnosis|Differentiating Cystic fibrosis from other Diseases]]== |
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| | ==[[Cystic fibrosis epidemiology and demographics|Epidemiology and Demographics]]== |
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| ==[[Cystic fibrosis risk factors|Risk Factors]]== | | ==[[Cystic fibrosis risk factors|Risk Factors]]== |
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| ==[[Cystic fibrosis screening|Screening]]== | | ==[[Cystic fibrosis screening|Screening]]== |
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| ==[[Cystic fibrosis causes|Causes]]==
| | ==[[Cystic fibrosis natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
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| ==[[Cystic fibrosis differential diagnosis|Differentiating Cystic fibrosis]]==
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| ==[[Cystic fibrosis natural history|Complications & Prognosis]]== | |
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| ==Diagnosis== | | ==Diagnosis== |
| [[Cystic fibrosis history and symptoms|History and Symptoms]] | [[Cystic fibrosis physical examination|Physical Examination]] | [[Cystic fibrosis staging|Staging]] | [[Cystic fibrosis laboratory tests|Laboratory tests]] | [[Cystic fibrosis electrocardiogram|Electrocardiogram]] | [[Cystic fibrosis x ray|X Rays]] | [[Cystic fibrosis CT|CT]] | [[Cystic fibrosis MRI|MRI]] [[Cystic fibrosis echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Cystic fibrosis other imaging findings|Other images]] | [[Cystic fibrosis other diagnostic studies|Alternative diagnostics]] | | [[Cystic fibrosis diagnostic study of choice|Diagnostic Study of Choice]] | [[Cystic fibrosis history and symptoms|History and Symptoms]] | [[Cystic fibrosis physical examination|Physical Examination]] | [[Cystic fibrosis laboratory findings|Laboratory Findings]] | [[Cystic fibrosis electrocardiogram|Electrocardiogram]] | [[Cystic fibrosis chest x ray|Chest X Ray]] | [[Cystic fibrosis echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Cystic fibrosis CT|CT]] | [[Cystic fibrosis MRI|MRI]] | [[Cystic fibrosis other imaging findings|Other Imaging Findings]] | [[Cystic fibrosis other diagnostic studies|Other Diagnostic Studies]] |
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| ==Treatment== | | ==Treatment== |
| [[Cystic fibrosis medical therapy|Medical therapy]] | [[Cystic fibrosis surgery|Surgical options]] | [[Cystic fibrosis primary prevention|Primary prevention]] | [[Cystic fibrosis secondary prevention|Secondary prevention]] | [[Cystic fibrosis cost-effectiveness of therapy|Financial costs]] | [[Cystic fibrosis future or investigational therapies|Future therapies]] | | [[Cystic fibrosis medical therapy|Medical Therapy]] | [[Cystic fibrosis surgery|Surgery]] | [[Cystic fibrosis primary prevention|Primary Prevention]] | [[Cystic fibrosis secondary prevention|Secondary Prevention]] | [[Cystic fibrosis cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Cystic fibrosis future or investigational therapies|Future or Investigational Therapies]] |
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| ==Diagnosis and monitoring==
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| Cystic fibrosis may be diagnosed by many different categories of testing including those such as, [[newborn screening]], [[sweat test]]ing, or [[genetic testing]]. As of 2006 in the United States, 10 percent of cases are diagnosed shortly after birth as part of newborn screening programs. The newborn screen initially measures for raised blood concentration of [[immunoreactive trypsinogen]].<ref>Davies J et al. Cystic Fibrosis. BMJ. 2007 Dec 15;335(7632):1255–59.</ref> However, most states and countries do not screen for CF routinely at birth. Therefore, most individuals are diagnosed after symptoms prompt an evaluation for cystic fibrosis. The most commonly-used form of testing is the sweat test. Sweat-testing involves application of a medication that stimulates sweating ([[pilocarpine]]) to one [[electrode]] of an apparatus and running [[electric current]] to a separate electrode on the skin. This process, called [[iontophoresis]], causes sweating; the sweat is then collected on filter paper or in a capillary tube and analyzed for abnormal amounts of [[sodium]] and [[chloride]]. People with CF have increased amounts of sodium and chloride in their sweat. CF can also be diagnosed by identification of mutations in the CFTR gene.<ref>Stern, RC. ''The diagnosis of cystic fibrosis.'' N Engl J Med 1997; 336:487. PMID 9017943</ref>
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| ===Prenatal diagnosis===
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| Couples who are pregnant or who are planning a pregnancy can themselves be tested for CFTR gene mutations to determine the likelihood that their child will be born with cystic fibrosis. Testing is typically performed first on one or both parents and, if the risk of CF is found to be high, testing on the [[fetus]] can then be performed. Cystic fibrosis testing is offered to many couples in the US.<ref>ACOG Committee Opinion #325: ''Update on Carrier Screening for Cystic Fibrosis.'' Obstet Gynecol 2005; 106:1465.</ref> The [[American College of Obstetricians and Gynecologists]] (ACOG) recommends testing for couples who have a personal or close family history. Additionally, ACOG recommends that carrier testing be offered to all Caucasian couples and be made available to couples of other ethnic backgrounds.<ref>American College of Obstetricians and Gynecologists and American College of Medical Genetics. ''Preconception and prenatal carrier screening for cystic fibrosis. Clinical and laboratory guidelines.'' American College of Obstetricians and Gynecologists, Washington, DC, October 2001.</ref>
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| Because development of CF in the fetus requires each parent to pass on a mutated copy of the CFTR gene and because CF testing is expensive, testing is often performed on just one parent initially. If that parent is found to be a carrier of a CFTR gene mutation, the other parent is then tested to calculate the risk that their children will have CF. CF can result from more than a thousand different mutations and, as of 2006, it is not possible to test for each one. Testing analyzes the blood for the most common mutations such as ΔF508 — most commercially available tests look for 32 or fewer different mutations. If a family has a known uncommon mutation, specific screening for that mutation can be performed. Because not all known mutations are found on current tests, a negative screen does not guarantee that a child will not have CF.<ref>Elias, S, Annas, GJ, Simpson, JL. ''Carrier screening for cystic fibrosis: Implications for obstetric and gynecologic practice. Am J Obstet Gynecol 1991; 164:1077. PMID 2014829</ref> In addition, because the mutations tested are necessarily those most common in the highest risk groups, testing in lower risk ethnicities is less successful because the mutations commonly seen in these groups are less common in the general population. These couples may therefore consider testing through labs that offer CF screens with a high number of mutations tested.
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| Couples who are at high risk for having a child with CF will often opt to perform further testing before or during pregnancy. [[In vitro fertilization]] with [[preimplantation genetic diagnosis]] offers the possibility to examine the [[embryo]] prior to its placement into the uterus. The test, performed 3 days after [[fertilization]], looks for the presence of abnormal CF genes. If two mutated CFTR genes are identified, the embryo is not used for [[embryo transfer]] and an embryo with at least one normal gene is implanted.
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| During pregnancy, testing can be performed on the [[placenta]] ([[chorionic villus sampling]]) or the fluid around the fetus ([[amniocentesis]]). However, [[chorionic villus sampling]] has a risk of fetal death of 1 in 100 and amniocentesis of 1 in 200,<ref>Tabor A, Philip J, Madsen M, Bang J, Obel EB, Norgaard-Pedersen B. ''Randomised controlled trial of genetic amniocentesis in 4606 low-risk women.'' Lancet. 1986 Jun 7;1(8493):1287–93. PMID 2423826</ref> so the benefits must be determined to outweigh these risks prior to going forward with testing. Alternatively, some couples choose to undergo [[third party reproduction]] with [[Egg donor|egg]] or [[sperm donation|sperm donors]].
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| ===The role of chronic infection in lung disease===
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| The lungs of individuals with cystic fibrosis are colonized and infected by bacteria from an early age. These bacteria, which often spread amongst individuals with CF, thrive in the altered mucus, which collects in the small airways of the lungs. This mucus encourages the development of bacterial microenvironments ([[biofilm]]s) that are difficult for immune cells (and antibiotics) to penetrate. The lungs respond to repeated damage by thick secretions and chronic infections by gradually remodeling the lower airways ([[bronchiectasis]]), making infection even more difficult to eradicate.<ref name="Saiman">Saiman L. ''Microbiology of early CF lung disease.'' Paediatr Respir Rev. 2004;5 Suppl A:S367-9. PMID 14980298</ref>
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| Over time, both the types of bacteria and their individual characteristics change in individuals with CF. In the initial stage, common bacteria such as ''[[Staphylococcus aureus]]'' and ''[[Hemophilus influenzae]]'' colonize and infect the lungs. Eventually, however, ''[[Pseudomonas aeruginosa]]'' (and sometimes ''[[Burkholderia cepacia complex|Burkholderia cepacia]]'') dominates. Once within the lungs, these bacteria adapt to the environment and develop [[antibiotic resistance|resistance]] to commonly used antibiotics. ''Pseudomonas'' can develop special characteristics that allow the formation of large colonies, known as "mucoid" ''Pseudomonas'' and rarely seen in people that do not have CF.<ref name="Saiman" />
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| One way in which infection has spread is by passage between different individuals with CF.<ref>Tummler B, Koopmann U, Grothues D, Weissbrodt H, Steinkamp G, von der Hardt H. ''Nosocomial acquisition of Pseudomonas aeruginosa by cystic fibrosis patients.'' J Clin Microbiol. 1991 Jun;29(6):1265–7. PMID 1907611</ref> In the past, people with CF often participated in summer "CF Camps" and other recreational gatherings.<ref>Centers for Disease Control and Prevention (CDC). ''Pseudomonas cepacia at summer camps for persons with cystic fibrosis.'' MMWR Morb Mortal Wkly Rep. 1993 Jun 18;42(23):456-9. PMID 7684813</ref><ref>Pegues DA, Carson LA, Tablan OC, FitzSimmons SC, Roman SB, Miller JM, Jarvis WR.''Acquisition of Pseudomonas cepacia at summer camps for patients with cystic fibrosis. Summer Camp Study Group.'' J Pediatr. 1994 May;124(5 Pt 1):694–702. PMID 7513755</ref> Hospitals grouped patients with CF into common areas and routine equipment (such as [[nebulizer]]s)<ref>Pankhurst CL, Philpott-Howard J. ''The environmental risk factors associated with medical and dental equipment in the transmission of Burkholderia (Pseudomonas) cepacia in cystic fibrosis patients.'' J Hosp Infect. 1996 Apr;32(4):249-55. PMID 8744509</ref> was not sterilized between individual patients.<ref>Jones AM, Govan JR, Doherty CJ, Dodd ME, Isalska BJ, Stanbridge TN, Webb AK. ''Identification of airborne dissemination of epidemic multiresistant strains of Pseudomonas aeruginosa at a CF centre during a cross infection outbreak.'' Thorax. 2003 Jun;58(6):525-7. PMID 12775867</ref> This led to transmission of more dangerous strains of bacteria among groups of patients. As a result, individuals with CF are routinely isolated from one another in the healthcare setting and healthcare providers are encouraged to wear gowns and gloves when examining patients with CF in order to limit the spread of virulent bacterial strains.<ref>Hoiby N. ''Isolation and treatment of cystic fibrosis patients with lung infections caused by Pseudomonas (Burkholderia) cepacia and multiresistant Pseudomonas aeruginosa.'' Neth J Med. 1995 Jun;46(6):280-7. PMID 7643943</ref> Often, patients with particularly damaging bacteria will attend clinics on different days and in different buildings than those without these infections.
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| ==History==
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| [[Image:Dorothy Hansine Andersen.jpg|thumb|right|National Library of Medicine picture of [[Dorothy Hansine Andersen]]. Andersen first described cystic fibrosis of the pancreas.]]
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| The name ''cystic fibrosis'' refers to the characteristic 'fibrosis' (tissue scarring) of the biliary tract ("cystic" being a generic term for all that is related to the biliary vesicle and/or the bladder), first recognized in the 1930s.<ref name="andersen">Andersen DH. ''Cystic fibrosis of the pancreas and its relation to celiac disease: a clinical and pathological study.'' Am J Dis Child 1938; 56:344–399</ref> Formerly known as cystic fibrosis of the [[pancreas]], this entity has increasingly been labeled simply ''cystic fibrosis''.<ref name="pancreas">{{cite web| date = [[April 26]], [[2006]]| url =http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219700&blnShowBack=True&idContentType=767| title =Cystic Fibrosis; CF - Mucoviscidosis| publisher =[[Entrez]]| accessdate =2007-02-28}}</ref> Although the entire clinical spectrum of CF was not recognized until the 1930s, certain aspects of CF were identified much earlier. Indeed, literature from Germany and Switzerland in the 1700s warned "Wehe dem Kind, das beim Kuß auf die Stirn salzig schmekt, es ist verhext und muss bald sterben," which translates to "Woe is the child kissed on the brow who tastes salty, for he is cursed and soon must die," recognizing the association between the salt loss in CF and illness. [[Carl von Rokitansky]] described a case of fetal death with [[meconium peritonitis]], complication of meconium ileus associated with cystic fibrosis. Meconium ileus was first described in 1905 by [[Karl Landsteiner]].<ref>Busch R. ''On the history of cystic fibrosis.'' Acta Univ Carol [Med] (Praha). 1990;36(1-4):13-5. PMID 2130674</ref> In 1936, [[Guido Fanconi]] published a paper describing a connection between celiac disease, cystic fibrosis of the pancreas, and [[bronchiectasis]].<ref>Fanconi G, Uehlinger E, Knauer.C. ''Das coeliakiesyndrom bei angeborener zysticher pankreasfibromatose und bronchiektasien.'' Wien Med Wschr 1936; 86:753–756.</ref>
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| In 1938, [[Dorothy Hansine Andersen]] published an article titled "''Cystic fibrosis of the pancreas and its relation to celiac disease: a clinical and pathological study''" in the American Journal of Diseases of Children. In her paper, she described the characteristic cystic fibrosis of the pancreas correlated it with the lung and intestinal disease prominent in CF.<ref name="andersen" /> She also first hypothesized that CF is a recessive disease and first used pancreatic enzyme replacement to treat affected children. In 1952, Paul di Sant' Agnese discovered abnormalities in sweat electrolytes; the sweat test was developed and improved over the next decade.<ref>Di Sant' Agnese PA, Darling RC, Perera GA, et al. ''Abnormal electrolyte composition of sweat in cystic fibrosis of the pancreas: clinical implications and relationship to the disease.'' Pediatrics 1953; 12:549–563.</ref>
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| In 1988, the first mutation for CF, [[Delta-F508|ΔF508]], was discovered by Francis Collins, [[Lap-Chee Tsui]] and John R. Riordan on the seventh chromosome. Research has subsequently found over 1000 different mutations that cause CF. Lap-Chee Tsui led a team of researchers at the [[Hospital for Sick Children]] in Toronto that discovered the gene responsible for CF in 1989. Cystic fibrosis represents the first genetic disorder elucidated strictly by the process of [[reverse genetics]]. Because mutations in the CFTR gene are typically small, [[classical genetics]] techniques were not able to accurately pinpoint the mutated gene.<ref>Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, et al. ''Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.'' Science. 1989 Sep 8;245(4922):1066–73. Erratum in: Science 1989 Sep 29;245(4925):1437. PMID 2475911</ref> Using protein markers, [[gene linkage]] studies were able to map the mutation to chromosome 7. [[Chromosome walking]] and [[chromosome jumping|jumping]] techniques were then used to identify and [[DNA sequencing|sequence]] the gene.<ref>Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, et al. ''Identification of the cystic fibrosis gene: chromosome walking and jumping.''Science. 1989 Sep 8;245(4922):1059–65. PMID 2772657 </ref>
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| ==Public Awareness== | | ==Case Studies== |
| | | :[[Cystic fibrosis case study one|Case #1]] [[Category:Gastroenterology]] [[Category:Pediatrics]] [[Category:Pulmonology]] |
| Some children with cystic fibrosis in the United States call their disease ''65 Roses'' because the words are easier to pronounce. This trademarked phrase has been popularized by the [[Cystic Fibrosis Foundation]]. The phrase came into being when it was used by a young boy who had overheard his mother, a volunteer for the Foundation, speaking of his illness. He later informed her that he knew she was working to help with "sixty-five roses"<ref name="65roses">{{cite web| url =http://www.cff.org/aboutCFFoundation/About65Roses/| title =The Story of 65 Roses| publisher =[[Cystic Fibrosis Foundation]]| accessdate =2006-07-06}}</ref> The term has since been used as a symbol by organizations and families of cystic fibrosis victims.
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| ==See also==
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| *[[List of cystic fibrosis organizations]]
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| *[[Dor Yeshorim]]
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| ==References==
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| {{Reflist|2}}
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| ==External links==
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| <!-- please don't unilaterally delete links without discussion -->
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| *{{dmoz|Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/}}
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| *[http://www.cfww.org/ Cystic Fibrosis Worldwide]
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| *[http://www.cff.org Cystic Fibrosis Foundation]
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| *[http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=90 Cystic fibrosis pictures (Univ Geneva, Switzerland)]
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| * {{GeneTests|cf}}
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| *[http://rarediseasesnetwork.epi.usf.edu/gdmcc/learnmore/index.htm#cf Rare Diseases Clinical Research Network]
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| *[http://genecards.org/cgi-bin/cardsearch.pl?search=cystic+fibrosis&search_type=kwd&mini=yes&speed=fast#results Search GeneCards for genes envolved in Cystic Fibrosis]
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| {{SIB}}
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| {{Other metabolic pathology}}
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| {{Link FA|es}}
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| [[ar:تليف كيسي]] | |
| [[ca:Fibrosi quística]] | |
| [[cs:Cystická fibróza]]
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| [[cy:Ffibrosis systig]]
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| [[da:Cystisk fibrose]]
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| [[de:Mukoviszidose]]
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| [[et:Tsüstiline fibroos]]
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| [[es:Fibrosis quística]]
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| [[eu:Fibrosi kistiko]]
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| [[fa:فیبروز کیستیک]]
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| [[fr:Mucoviscidose]]
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| [[it:Fibrosi cistica]]
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| [[he:סיסטיק פיברוזיס]]
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| [[hu:Cisztás fibrózis]]
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| [[nl:Taaislijmziekte]]
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| [[ja:嚢胞性線維症]]
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| [[no:Cystisk fibrose]]
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| [[nn:Cystisk fibrose]]
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| [[pl:Mukowiscydoza]]
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| [[pt:Fibrose cística]]
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| [[ru:Муковисцидоз]]
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| [[sq:Fibroza kistike]]
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| [[simple:Cystic fibrosis]]
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| [[sk:Cystická fibróza]]
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| [[sr:Цистична фиброза]]
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| [[fi:Kystinen fibroosi]]
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| [[sv:Cystisk fibros]]
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| [[uk:Кістозний фіброз]]
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| [[zh:囊腫性纖維化]] | |
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