|
|
| Line 1: |
Line 1: |
| {|class="infobox" style="position: fixed; top: 65%; right: 10px; margin: 0 0 0 0; border: 0; float: right; | | {| class="infobox" style="position: fixed; top: 65%; right: 10px; margin: 0 0 0 0; border: 0; float: right;" |
| |- | | |- |
| | {{#ev:youtube|https://https://www.youtube.com/watch?v=BhFpFiZumS0|350}} | | | {{#ev:youtube|https://https://www.youtube.com/watch?v=BhFpFiZumS0|350}} |
| Line 9: |
Line 9: |
|
| |
|
| ==Overview== | | ==Overview== |
| '''Cystic fibrosis''' (also known as '''CF''', '''mucoviscoidosis''', or '''mucoviscidosis''') is a [[Genetic disorder|hereditary disease]] that affects the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure.<ref name=CDCCF1> Cystic Fibrosis. Centers for Disease Prevention and Control (1995). https://www.cdc.gov/excite/ScienceAmbassador/ambassador_pgm/lessonplans/high_school/Am%20I%20a%20Carrier%20for%20Cystic%20Fibrosis/Cystic_Fibrosis_Fact_Sheet.pdf Accessed on July 28, 2016 </ref>
| | . |
| | |
| Thick mucus production, as well as a less competent [[immune system]], results in frequent [[pneumonia|lung infections]]. Diminished secretion of pancreatic enzymes is the main cause of [[failure to thrive|poor growth]], [[Steatorrhea|fatty diarrhea]] and deficiency in fat-soluble vitamins. Males can be [[infertility|infertile]] due to the condition [[CBAVD|congenital bilateral absence of the vas deferens]]. Often, symptoms of CF appear in infancy and childhood. [[Meconium ileus]] is a typical finding in newborn babies with CF.
| |
| | |
| Individuals with cystic fibrosis can be diagnosed prior to birth by [[genetic testing]]. [[Guthrie test|Newborn screening tests]] are increasingly common and effective. The diagnosis of CF may be confirmed if high levels of salt are found during a [[sweat test]], although some false positives may occur.
| |
| | |
| There is no cure for CF, and most individuals with cystic fibrosis die young: many in their 20s and 30s from lung failure. However, with the continuous introduction of many new treatments, the life expectancy of a person with CF is increasing to ages as high as 40 or 50. [[Lung transplantation]] is often necessary as CF worsens.
| |
| | |
| Cystic fibrosis is one of the most common life-shortening, childhood-onset inherited diseases. In the United States, 1 in 3900 children is born with CF<ref>[http://cfri.org/framesfaq2.htm About Cystic Fibrosis<!-- Bot generated title -->]</ref>. It is most common among Europeans and Ashkenazi Jews; one in twenty-two people of European descent are [[Genetic carrier|carriers]] of one gene for CF, making it the most common genetic disease in these populations. Ireland has the highest rate of CF carriers in the world (1 in 19).
| |
| | |
| CF is caused by a [[mutation]] in a [[gene]] called the [[CFTR (gene)|cystic fibrosis transmembrane conductance regulator]] (CFTR). The [[cystic fibrosis transmembrane conductance regulator|product of this gene]] is a chloride ion channel important in creating sweat, [[digestion|digestive]] juices, and [[mucus]]. Although most people without CF have two working copies (alleles) of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither allele can produce a functional CFTR protein. Therefore, CF is considered an [[Autosome|autosomal]] [[recessive gene|recessive]] disease.
| |
|
| |
|
| ==Historical Perspective== | | ==Historical Perspective== |