Cystic fibrosis
| Cystic fibrosis | |
|---|---|
| Other names | Mucoviscidosis |
 | |
| Medical specialty | Medical genetics, pulmonology |
| Symptoms | Difficulty breathing, coughing up mucus, poor growth, fatty stool[1] |
| Usual onset | Symptoms recognizable ~6 month[2] |
| Duration | Long term[3] |
| Causes | Genetic (autosomal recessive)[1] |
| Risk factors | Genetic |
| Diagnostic method | Sweat test, genetic testing[1] |
| Treatment | Physiotherapy, antibiotics, pancreatic enzyme replacement, cystic fibrosis transmembrane conductance regulator modulators, lung transplantation[4] |
| Prognosis | Life expectancy between 42 and 50 years (developed world)[5] |
| Frequency | 1 out of 3,000 (Northern European)[1] |
Cystic fibrosis, also known as mucoviscidosis, CF, and 65 roses, is an obstructive lung condition a person may get from their parents. It makes the body produce thick, sticky mucus, which builds up in the lungs, the digestive system, pancreas, and other parts of the body.[6] It also affects the bones.
People with cystic fibrosis need yearly checks for CF-related diabetes in addition to all of the problems it can cause.
If both parents have the cystic fibrosis gene, and pass it into their child, the child will have cystic fibrosis. A cystic fibrosis gene is needed from each parent. The parent might not have cystic fibrosis but still might have the gene. A person with cystic fibrosis is not contagious (they cannot give it to anyone else).
There is no cure for cystic fibrosis, but there are a lot of medications that help keep people healthy.[7] 1 out of every 3,000 northern Europeans are affected by CF.
What CF does to the body
[change | change source]Cystic fibrosis affects the entire body. Overall, the body does not secret enough Cl- and has trouble moving salt to the parts of the body that need it. Since the body has trouble moving salt, it piles up in places it is not supposed to like the lungs, stomach and intestines.[8] This is called salt retention, and it means the body doesn't or can't remove salt from the body via the urine (pee). Many people with CF are unable to have children.
- Lungs
When salt gets stuck in the lungs it causes there to be less water, which makes mucus become very thick. It becomes very hard to breathe.
Treatment
[change | change source]There is no cure for cystic fibrosis. Even though people with the disease must do things to stay healthy, because they are more vulnerable to germs and allergies. Healthy habits keep the person from getting more sick.
Treatment includes breathing medicine (an inhaler) to help make the lungs stronger and add water to the lungs to keep the mucus thinner so it is easier to cough up. When there is thinner and less mucus it is easier to breathe.
Cystic fibrosis suffers can increase their quality of life by keeping themselves and their environment clean, and staying away from germs as much as possible. Drinking enough water is helps make symptoms better, such as mucus in the lungs and throat. Taking enzymes can help digest food if there is mucus in the stomach.
Exercise clears mucus. It builds strong muscles and bones and strengthens the lungs. Taking vitamins (such as vitamin C and D) helps the body fight off infection. It also helps the body grow and function well.[9]
- Inhaled antibiotics are used to keep bacteria from growing in the thick mucus
- Inhaled salt-water helps keep the lungs moisturized
- Inhaled corticosteroids helps make the lungs work better
A person with CF might need daily therapy from a parent or carer to loosen the mucus in their lungs. Daily tasks might involve them on their stomach having their back shaken or rubbed, and using breathing masks.[10]
Testing for cystic fibrosis
[change | change source]- Genetic test - this is used if the sweat test is positive to see if they have both genes. In the UK all babies are screened at birth for the defect (CFTR gene, chromosome 7)
- Sweat chloride test - this tests the salt level of a persons sweat.
65 roses
[change | change source]"65 roses" is how some children refer to their condition since cystic fibrosis is difficult for a young child to say. '65 Roses' is also a trademarked phrase by the Cystic Fibrosis Foundation to help control its use. It is a very helpful way for young children to understand. When spoken aloud, it sounds similar to cystic fibrosis.
Support for patients and carers
[change | change source]Cystic Fibrosis Trust Archived 2013-04-02 at the Wayback Machine
CF Kids – a charity that provides practical help and support
References
[change | change source]- ↑ 1.0 1.1 1.2 1.3 Cite error: The named reference
O2009was used but no text was provided for refs named (see the help page). - ↑ Allen JL, Panitch HB, Rubenstein RC (2016). Cystic Fibrosis. CRC Press. p. 92. ISBN 9781439801826. Archived from the original on 2017-09-08.
- ↑ Cite error: The named reference
Mas2013was used but no text was provided for refs named (see the help page). - ↑ Shteinberg M, Haq IJ, Polineni D, Davies JC (June 2021). "Cystic fibrosis". Lancet. 397 (10290): 2195–2211. doi:10.1016/s0140-6736(20)32542-3. PMID 34090606. S2CID 235327978.
- ↑ Cite error: The named reference
Ong2015was used but no text was provided for refs named (see the help page). - ↑ "Cystic fibrosis". ncbi.nlm.nih.gov. 2011. Retrieved 7 November 2011.
- ↑ Stites DP, Caldwell J, Carr MC, Fudenberg HH (1975). "Ontogeny of immunity in humans". Clin Immunol Immunopathol. 4 (4): 519–27. doi:10.1016/0090-1229(75)90093-8. PMID 0001167.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ↑ Frizzell RA (1995). "Functions of the cystic fibrosis transmembrane conductance regulator protein". Am J Respir Crit Care Med. 151 (3 Pt 2): S54-8. doi:10.1164/ajrccm/151.3_Pt_2.S54. PMID 7533606.
- ↑ Judy Fulton, Susan Casey, Elisabeth Luder, Karen Maguiness, Annie McKenna, Leslie Hazle. Pamphlet by: Cystic Fibrosis Foundation. Dec 2007 pNA.
- ↑ "CF foundation - physiotherapy". CF Foundation.