Cystic Fibrosis

Cystic Fibrosis Impact on Lungs
Introduction
Cystic Fibrosis (CF) is a genetic and possible genetically inherited disease that affects lungs. It is characterized by buildup of thick and stick mucus that is had to cough out of the lungs. With the accumulation of the thick and sticky mucus, it can result to difficulty in breathing and can lead to other complications including lung infections, liver disease, and diabetes[endnoteRef:1]. CF has also been shown to cause digestive problems and ultimately malnutrition through interference with pancreatic functioning and preventing enzymes which are involved in the breaking down of food. In male, the thick mucus has also been attributed to infertility by blocking the vas deferens. This paper is a detailed presentation on CF and covers diagnosis, treatment, the point at which lung transplant is needed, and how medicine has changed over the years to adapt to children. [1: Cystic fibrosis. U.S. National Library of Medicine, U.S. gov. https://ghr.nlm.nih.gov/condition/cystic-fibrosis. Published January 21, 2020. Accessed January 24, 2020]
Diagnosis
Because CF is a genetic disorder, diagnosis can and should be done early, possibly at birth. Early diagnosis allows for early treatment and thus increases the chances for a better and healthier living later in life. The three tests that are common for diagnosis of CF are;
i. Blood test – this test involves checking of the immunoreactive trypsinogen (IRT) in blood. This test is relevant because persons with CF has abnormally high levels of IRT in their blood.
ii. DNA test – because CF is a genetic disorder, it means there is a gene anomaly, which can be detected through DNA testing. A DNA test therefore looks for the abnormal gene in the CFTR gene.
iii. Sweat test – this test determines the level of salt(chloride) in sweat and a higher than normal measure is an indication of the possibility of CF.
In addition to the above three, CF can also be diagnosed in an unborn child through prenatal diagnosis test. This test uses mutated CFTR genes, by testing a sample of amniotic fluid or tissue from the placenta. However, incase these tests indicate a positive test for CF, additional test has to be done once the baby is born.
Treatment
CF is a genetic disorder, therefore, there is not any known cure yet, however, there are medicines and other therapeutic procedures that are used to manage the symptoms.
Medicines
The main health problem associated with CF is the thick and sticky mucus and thus, the first line of action for doctors is to provide medicine that open airways by thinning this mucus[endnoteRef:2]. Subsequent, they provide medicine to prevent any possible infections and to help the body retrieve nutrients from food eaten. [2: Cystic Fibrosis, WebMD. https://www.webmd.com/children/what-is-cystic-fibrosis#2, December 12, 2019. Accessed January 24, 2020.]
i. Antibiotics – these are used to prevent or treat any infections in the lungs and to help the lungs function better. These are in the forms of a pill, inhaler, or an injection.
ii. Anti-inflammatory medication – anti-inflammation medication is needed as it is inflammation that causes many of the CF complications e.g. lung disease. Anti-inflammatory medication used includes corticosteroids and/or ibuprofen.
iii. Mucus thinner – used to thin the mucus so as to get it out of the airway. These are administered through an inhaler.
iv. Bronchodilators – these are used to relax and open the airway, and are administered through an inhaler.
v. CFTR modulators – used to improve CFTR work as it is meant to, to improve on lungs functioning, and the general health of the patient e.g. gaining weight.
vi. Therapy – this is a combination or therapeutic medication tezacaftor/ivacaftor/elexacaftor, which are CFTR modulators and they work by targeting the CFTR protein and improve its functioning.
Techniques for airway clearance
i. Chest therapy – massage, tapping, or/and clapping or the check or back to clear mucus form the lungs
ii. Oscillator gadget – a machine that oscillates the airway to loosen mucus and make it possible to cough it out.
Physical therapy
This involves breathing exercises which are meant to push air between the mucus and the airway wall, thus making it easier to cough the mucus out and at least open the airways. Some of the common exercises are; autogenic drainage, and active breathing cycle.
When a single/double lung transplant is needed
Lung transplant is not the right treatment even for persons suffering from CF. Nevertheless, if the CF disorder has damaged lungs to appoint where the body is unable to get sufficient oxygen, then lung transplant might be the next possible treatment procedure. Additionally, if the medication and management procedure available for CF are not effective, then lung transplant might be the other possible alternative.
For CF, whether a single or double lung transplant is needed will depend on the status of the patient’s lungs as well as other prevailing conditions. Ultimately, the decision for lung transplant, a single, or a double lung transplant should be made by the doctor[endnoteRef:3]. [3: Lung Transplant, Mayo Clinic. https://www.mayoclinic.org/tests-procedures/lung-transplant/about/pac-20384754, July 11, 2019. Accessed January 24, 2020.]
A single lung transplant might be recommended if, 1) there is only one lung from the donor. Ordinarily, lung donation is done when a person with healthy lungs passes away, but if one of the donor lungs is damaged, then only a single lung transplant can be done. 2) With transplant, there is always the risk of the body rejecting the new organ. In case the doctors are not sure on whether the body will reject the new lungs, then it would be recommended to carry out a single lung transplant, to reduce the risk in case of rejection.
Double lung transplant is done if; the CF patient has their lungs damaged to a point where they do not function as needed, there is a ready donor with two healthy lungs, and all the risk factors have been determined, e.g. there is no risk of the receivers body rejecting the new lungs.
Evolution of medicine to adapt for children
About 15 years ago, many children with CF would die before reaching their teens, but due to new medication, more are living to their 30 and with more comfortable lives. The first change for this improvement is the ability to diagnose early, even before birth.
Once born, a child with CF will have their lungs cleared at the hospital and start a diet enriched with digestive enzyme and the necessary vitamins for the child to gain weight normally. One of the novel medications is implants that can be made into a child’s body and will release the required enzymes and mucus thinner to ensure that the think and sticky mucus, which is the main health problem in CF, is evacuated on a timely manner. A timely evaluation of the mucus helps to prevent the other health complications attributed to the condition.
In addition, a new treatment for CF that is still under research and experimentation involves an inhaled spray which contains copies of normal CF gene. These normal copies are delivered to the lungs for CF patients. About 100 CF patients have been shown positive response to this CF gene therapy treatment. Other novel treatment for kids include protein repair therapy – which repair defective CFTR, and a spice known as curcumin[endnoteRef:4]. [4: Livingston Jr. FR, Cystic Fibrosis. KidsHealth. https://kidshealth.org/en/parents/cf.html?WT.ac=ctg April, 2014. Accessed January 24, 2020. ]
Conclusion
CF is a genetic disease that affects lungs. Diagnosis can be done through blood test, DNA test, sweat test, and through prenatal diagnosis test using amniotic fluid or tissues of the placenta. There is not any known cure for CF yet, however, medicines used to manage the disorder include; antibiotics, anti-inflammatory medication, mucus thinner, bronchodilators, CFTR modulators, and therapy. Other techniques used are for clearing airway include chest therapy and oscillator gadgets. In case the lungs of a CF patient are damaged to function effectively, then a single or double lung transplant is recommended, however, the decision for lung transplant, a single, or a double lung transplant should be made by the doctor. Over the years, evolution is medicine has allowed for CF children to live longer and more comfortable lives. Of these advances in medicine, the most important is the ability to diagnose early, even before birth, and thus commence treatment early.
Bibliography
Cystic fibrosis. U.S. National Library of Medicine, U.S. gov. https://ghr.nlm.nih.gov/condition/cystic-fibrosis. Published January 21, 2020. Accessed January 24, 2020
Cystic Fibrosis, WebMD. https://www.webmd.com/children/what-is-cystic-fibrosis#2, December 12, 2019. Accessed January 24, 2020.
Lung Transplant, Mayo Clinic. https://www.mayoclinic.org/tests-procedures/lung-transplant/about/pac-20384754, July 11, 2019. Accessed January 24, 2020.
Livingston Jr. FR, Cystic Fibrosis. KidsHealth. https://kidshealth.org/en/parents/cf.html?WT.ac=ctg April, 2014. Accessed January 24, 2020.