Taking a Look at Cystic Fibrosis

Nearly 1 in every 30 Americans are a carrier of the recessive gene that leads to CF (About Cystic Fibrosis, n.d.). Although CF is a life-threatening condition, through the advancement of treatments and care, there has been a steady increase in life expectancy and improvement in the quality of life. The current mean age of survival is now 40. Although that does not seem very high, sixty years ago, a child diagnosed with CF did not survive childhood (About Cystic Fibrosis, n.d.). CF is a complex disease, where the types and severity of symptoms can differ widely from person to person. Symptoms may include fatigue, salty-tasting skin, persistent cough with phlegm, wheezing and shortness of breath, lung infections, and poor growth and weight loss (Cystic Fibrosis Symptoms, Causes & Risk Factors, 2018). Many different factors, such as the age of diagnosis, can affect an individual's health and the course of the

Cystic Fibrosis is a disorder where the exocrine glands secrete abnormally thick mucus, leading to obstruction of the pancreas and chronic infections of the lungs, which usually cause death in childhood or early adulthood. Some mildly affected patients may survive longer. Doctors can diagnose the disease by testing the patients perspiration because people with Cystic Fibrosis have high amounts of salt in their perspiration. Those with respiratory infections are treated with antibiotics, with aerosols that relieve constriction of the airways and liquefy the thick mucus, and by physical therapy to help patients cough up the obstructing secretions. Patients with pancreatic insufficiency can take pancreatic enzymes with meals.

Cystic Fibrosis causes abnormal amounts of excessively thick and sticky mucus to develop within the lungs, airways and the digestive system. Due to the thick and sticky mucus, digestive functions in the pancreas are impaired and bacteria is trapped in the lungs causing recurrent lung infections. Cystic Fibrosis Victoria (2015) states that symptoms of Cystic Fibrosis can include:

Cystic Fibrosis is a genetic disease that causes the body’s lungs to generate a different type of mucus than a non-infected body would. The contaminated lungs will produce mucus that is thick and adhesive which clogs the lungs and leads to an unpleasant and abhorrent lung infection. CF also interferes with the pancreas, disallowing the digestive enzymes from breaking down and absorbing food in the intestine. This can result in low nutrition, feeble growth, excessive sweat production, difficulties in breathing, and sometimes lung disease. When producing extra sweat and mucus, the body loses salt. If too much salt is lost, it can cause abnormal heart rhythms, disturbance of minerals in the blood, and perhaps, shock.

Cystic Fibrosis cannot be developed or contracted it is something you’re born with. CF is a recessive disease, it occurs when a child inherits one defective copy of the gene from each parent. This gene mutation is responsible for cystic fibrosis. ("Cystic fibrosis Canada," 2011) This gene is known as the CFTR gene ("www.medincinet.com," 1996). Reference Figure 3. The “gene makes a protein that controls the movement of salt and water in and out of your body's cells. In people who have cystic fibrosis, the gene makes a protein that doesn't work right. This causes the thick, sticky mucus” ("www.medincinet.com," 1996).

While the buildup of mucus on the lungs doesn’t allow the person to breathe as well, the buildup of mucus in the pancreas doesn’t allow the release of digestive enzymes that help the body break down food and absorb nutrients. There are many symptoms that come along with Cystic Fibrosis. The main symptom of Cystic Fibrosis is wheezing and shortness of breaths along with always having some type of lung infection

Those who are affected with cystic fibrosis have a higher than normal concentration of salt in their sweat. When parents kiss their child, they can taste the salt on their child’s skin. Other signs and symptoms of cystic fibrosis are reflected on the respiratory system or the digestive

The symptoms of cystic fibrosis are salty-tasting skin, persistent coughing (sometimes with phlegm), Lung infections that are frequent, shortness of breath, constipation, and male infertility. Some examples of lung infections are pneumonia and bronchitis. If you have Cystic Fibrosis, you’re mucus becomes sticky and thick, and blocks your airways and becomes built up in your lungs. All of the extra mucus build up makes it much easier

Specifically what Cystic Fibrosis affects is the cell’s permeability to move salt and water in and out. Damage progresses in the respiratory system and chronically in the digestive system. This is due to the lungs and pancreas secreting thick mucus that blocks passageways and preventing normal activity. Abdominal symptoms include inability of the pancreas to supply digestive enzymes to the intestine because of the thick mucus blocking the pancreatic duct. Also secreted sweat has too much salt, so the skin is more salty which becomes a problem is during prolonged exercise. Lastly it can affect fertility of men.

In the respiratory system, the mucus causes breathing difficulties, frequent respiratory infections and eventually permanent lung damage. The mucus builds up providing bacteria with a place to flourish. The most common infection comes from a bacterium called Pseudomonas aeruginosa. The body's response to P. aeruginosa includes inflammation, which causes episodes of intense breathing problems (Pseudomonas Genome Project, 1998). Normally the body will get rid of excess mucus by coughing before it's a problem but with the thick mucus involved in CF the body has a harder time to get rid of the thicker mucus. Lung disease is the usual cause of death in most patients (National Institutes of Health, 1995). In the digestive system, mucus can block the supply of enzymes used to break down food. The result of the blockage of such enzymes is malnutrition. The patient will have an excessive appetite but will not experience any weight gain. What is also evident is a failure to grow, CF was often misdiagnosed vaguely as "failure to thrive" when physicians didn't know the reason for this poor growth. Sweating is also a problem in people with CF. One of the basic defects in CF is the faulty transport of sodium and chloride (salt). People with CF lose excessive amounts of salt when they sweat. This causes the natural balance of salt in the body to be off balance, which may cause abnormal heart rhythms (National Institutes of Health, 1995).

Imagine drowning, lungs filling with water that swallows the air and suffocates those caught in it. Now, imagine drowning in a hospital bed surrounded by doctors and family members who can only stand by and watch the inevitable. This is the fate of a person with Cystic Fibrosis. Cystic Fibrosis is a disease that forces a person to drown in mucus that fills their lungs while it wreaks havoc on the body. This chronic disease causes devastating health problems, has no cure, and forces patients to endure painful temporary treatments. Taking daily medications, maintaining a social life, and staying moderately healthy are a constant struggle for people with Cystic Fibrosis.

Cystic fibrosis also causes your sweat to become very salty. When you sweat, you lose large amounts of salt from your body. This can upset the stability of minerals in your blood and it can cause many health problems around your body. Examples of these problems include dehydration, an increased heart rate, tiredness, weakness, blood pressure decreased, heat stroke.

Here are some other changes affecting CF patients: Crackles, non-productive or productive cough, physical changes to the chest cavity, cyanosis, and clubbing of the fingernails. Genetic testing should be done since cystic fibrosis is an inherited disorder. Those affected with cystic fibrosis have parents “who do not have cystic fibrosis but are heterozygotes or carriers of the disease. A heterozygote has 1 dominant allele and 1 recessive allele.” (Grossman & Grossman, 2005, p. 46) My co-worker and her spouse are heterozygotes, and they have a 50/50 chance of having a cystic fibrosis child, they were not lucky with the odds and both their sons are affected with cystic fibrosis. These

Cystic Fibrosis is caused by a genetic defect in Chromosome 7. Chromosome 7 encodes the cystic fibrosis transmembrane conductance regulator, also known as CFTR. There are over 1,000 mutations of this gene causing cystic fibrosis, with each mutation manifesting as a different variation of disease onset and clinical presentation. The most common mutation is the loss of phenylalanine residue at deltaF508. The abnormal functioning CFTR causes impaired chloride transport and more viscous secretions. The defect causes dehydrated secretions in the respiratory tract and gastrointestinal tract. Being dehydrated, these secretions become more difficult to move throughout the body. Along with impaired

As a result of Cystic Fibrosis, the body produces unusually sticky and thick mucus that has the following effects. It makes the lungs clog with significant exposure to lung infection which threatens life. It also causes obstruction of the pancreas and prevents natural enzymes in their role of