Cystic Fibrosis is an inherited disorder which affects the secreting abilities of various glands in the body. These glands are the ones that are considered with both mucus and sweat made in the made. This disease presents with many different symptoms as it affects the lungs, intestines, liver, pancreas, sinuses and the genitals. This paper will go on to talk about the basic etiology of Cystic fibrosis. After the discussing the reasons why this disease happens, it will discuss the signs and symptoms that appear when a person is affected with it. Furthermore, there will be a section on the diagnosis and the proper detection of cystic fibrosis. Lastly, the paper will discuss the different medical treatments that are now present for the disease.
The worldwide incidence of the disease varies from 1 per 377 live births in some parts of England to one per 90,000 live births in Asian-American and African-American populations (FitzSimmons) Before we go into the intricate details of the disease, it should be known why alterations in the composition of mucus make such an impact to the human body. Mucus is a substance that is made by the cavities and organs of the human body. The mucus that is made in a normal person is watery and therefore it prevents the organs from drying out and getting infected. When affected with cystic fibrosis, the patient’s mucus becomes thick and sticky. Due to this reason, it cannot be cleared very readily by the body and it accumulates in lungs and sinuses. Increased mucus production and accumulation provides a decent medium for bacteria to grow. This makes the person more susceptible to infections that can go on to damage the vital organs of the body.
Cystic Fibrosis is an autosomal recessive disease which is caused by a defect in the CFTR gene. Considering how it is an autosomal recessive condition, the person has to inherit a defected gene from both the mother and father to develop the disease. Seeing how it is a hereditary condition, this disease has different variants. This gene basically controls the movements of salt and water in and out of the cells of the body. This gene basically functions as chloride channel which is regulated by cyclic adenosine monophosphate (cAMP) Due to a defective CFTR, there is decreased secretion of chloride and increased reabsorption of water and salt across the epithelial cells. The result is that the mucus made is not very hydrated and thus has an increased consistency. This makes the mucus sticky and therefore causes the symptoms that will be discussed in the Signs and Symptoms
Seeing how this is a disease that affects many different systems in the body, the symptoms vary from person to person. Before we go into the specific signs and symptoms, we should see why these symptoms happen in the first place. Going from the top of head to the feet, we see that the sinuses get infected due to buildup of mucus. The lungs also have a buildup of thick and sticky mucus which leads to repeated infections (Rosaler) Normally, the cilia lining the airway can sweep up the mucus to be swallowed by the esophagus. However, seeing how the consistency is increased, the mucus plugs the airways leading to breathing difficulties and increased infections. The symptoms that arise are that the person has repeated lung infections that do not respond to the usual antibiotics. Furthermore, they also have recurrent sinusitis. These recurrent infections can lead to bigger problems like bronchitis, pneumonia, and bronchiectasis. Considering the gastrointestinal system, the liver biliary ducts and the pancreatic ducts can get blocked because the secretion is too thick. Due to this reason, it is seen that our intestines cannot absorb the fats and proteins . This results in ongoing diarrhea that is bulky and foul smelling. This results in increased gas or could also lead to severe constipation which abdominal pain and discomfort. In children, these GIT symptoms result in poor weight fain and growth retardation. Furthermore, female and male reproductive system complaints are also noticed. These problems are more significant in males because males with cystic fibrosis are born without a vas deferens. Because this tube delivers the sperm from the testes to the penis, these males are usually infertility. Infertility is also seen in women who have trouble conceiving because mucus is blocking the cervix. The sweat glands of the skin produce salty sweat and due to this reason, the first symptom often noticed in babies is that their skin tastes salty when it’s kissed.
Diagnosis for cystic fibrosis is usually made in the first few days of life either through genetic testing or blood testing. Majority of the infants born in developed countries are screened through genetic tests or blood tests (Farrell et.al) The genetic testing basically goes on to reveal whether the newborn has faulty CFTR genes. The blood test is carried out to check the functioning of the pancreas. If any of these tests come out positive, then the physician orders a sweat test. The sweat test which measures the amount of salt in a person’s sweat is gold standard for the diagnosis of cystic fibrosis (Gibson)
In the sweat test, the doctor triggers sweating by stimulating a patch of skin with a sweat producing chemical. Sweat is then collected on a paper and then is analyzed for high salt levels. The confirmation of cystic fibrosis is made when the salt levels in the sweat are more than normal. Along with these three tests, doctors also carry out chest and sinus x rays to see how badly these sites are affected. If infections are really severe, then sputum culture and lung function tests can also be carried out.
Seeing how cystic fibrosis is an inherited condition, there is no definitive cure for this illness. Therefore, the treatment that is used for these patients is symptomatic. The aim of the treatment is to ease or lessen the symptoms that arise. Another goal is to prevent or reduce the long-term damage that is caused by infection and stop other complications for taking place. Majority of the drugs used are targeted towards the digestive system and the respiratory system. The first line of treatment is antibiotics through mouth or inhaled through a nebulizer. This ensures that there are adequate levels of antibiotics circulating in the patient. Some of the common medications include Pulmozyme, Hypertonic saline and mannitol dry powder. All of these are agents that would make the mucus think and thus make it easier to be coughed up. The pathophysiology behind these drugs is that the more mucus that is coughed up, the lesser is the chances of infections.
For the GIT problems, nutritional therapy is required so the person does not become deficient in any of the essential minerals required. Adequate nutritional therapy will therefore help the person to stay active and maintain growth. Good nutrition will also make a person internally strong such that they are able to fight off lung infections. Apart from nutritional therapy, a person with cystic fibrosis requires oral pancreatic enzymes to help digest proteins and fats and absorb vitamin. Due to malabsorption of fat, fat soluble vitamins are usually deficient in a person with cystic fibrosis. Therefore, they are advised to take supplements of Vitamin A, D, E and K. Furthermore, for more severe cases, NG tubes are recommended to the patients at night. This is so they keep on getting a decent supply of nutritional solution when they are sleeping at night.
Because the pancreas of a person is affected, this usually results in diabetes and impaired blood glucose tolerance. Therefore, cystic diabetes patient often require supplemental insulin to keep their blood sugar levels under control. With increased in research and medical technology, experts are coming up with new medicines to overcome the symptoms of cystic fibrosis. McElvaney et.al looked over the effects of neutrophil elastase in the lung to see if the incidence of infections was decreased. After giving this medicine to 12 cystic fibrosis patients, it was seen that this enzyme did suppress the chronic inflammation that occurs in the lungs in cystic fibrosis. Another thing to take note of is that patients with cystic fibrosis are highly susceptible to infection by the bacteria Pseudomonas. Therefore, many ongoing researches go on to work on possible ways to reduce the incidence of infection by this bacteria. Valerius et al. revealed that colonization of the lung mucosa can be prevented in cystic fibrosis by early treatment with anti-pseudomonas chemotherapy.
Cystic Fibrosis is a condition that is very common all over the world. The only way to prevent this is to counsel the patients about pre-natal screening and reduced cousin marriages. Along with prevention, medical researchers are working on ways to come up with treatment for this condition. Even though symptomatic treatment is present, there are many complications and disabilities that come with patients who have cystic fibrosis. Seeing how many patients cannot have children, this disease is quite debilitating for some. Therefore, with increasing research and advancements in medical technology, it is possible that a cure would be uncovered in the near future.
Farrell, Philip M. et al. ‘Guidelines For Diagnosis Of Cystic Fibrosis In Newborns Through Older Adults: Cystic Fibrosis Foundation Consensus Report’. The Journal of pediatrics 153.2 (2008): 4 — 14. Print.
FitzSimmons, Stacey C. ‘The Changing Epidemiology Of Cystic Fibrosis’. The Journal of pediatrics 122.1 (1993): 1 — 9. Print.
Gibson, Lewis E, and Robert E. Cooke. ‘A Test For Concentration Of Electrolytes In Sweat In Cystic Fibrosis Of The Pancreas Utilizing Pilocarpine By Iontophoresis’. Pediatrics 23.3 (1959): 545 — 549. Print.
McAlveney, N.G, R, C Hubbard, and P. Brrier. ‘Aerosol ?1 -Antitrypsin Treatment For Cystic Fibrosis’. The Lancet 337.8738 (1991): 392-394. Print.
Rosaler, Maxine. Cystic Fibrosis. 1st ed. New York: Rosen Pub. Group, 2007. Print.
Valerius, Niels H, C Koch, and N. Hoiby. ‘Prevention Of Chronic Pseudomonas Aeruginosa Colonisation In Cystic Fibrosis By Early Treatment’. The Lancet 338.8769 (1991): 725 — 726. Print.
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