Written by Ethan Ma
Have you ever wondered “What’s cystic fibrosis?” or maybe you have never even heard of that term before. Well, cystic fibrosis affects many individuals every day that have to deal with this potentially dangerous disorder daily. “Should we have kids? Or “Where do I see myself in 10 years.” Questions like these are not supposed to cause discomfort, but for someone with cystic fibrosis, the answers may not come easily. To understand why, let's delve deeper into cystic fibrosis.
So what’s Cystic fibrosis? Cystic fibrosis, (usually called CF) is an inherited, genetic disorder. This hereditary disorder affects the body’s ability to transport salt (sodium and chloride) and water in and out of the cell, which disrupts the proper function of exocrine glands. Exocrine glands are the glands that produce thin, slippery, fluids such as mucus, which lubricate the organs and passageways in the body. The fluid also traps dust and pathogens in the digestive and respiratory system.
CF is a genetic disorder, but how is it caused? CF is caused by a mutation in the Cystic fibrosis transmembrane conductance regulator (CFTR) gene in males and females, so it’s not contagious. Genes are the blueprints for proteins that perform the cell functions within the cell. The normal CFTR gene produces the CFTR protein to allow salt and water into mucus so that the mucus is thin and easy-flowing and can be easily moved for cleansing the passageways in the body. When the CFTR gene mutates, the shape of the protein changes, and it can no longer function anymore. As a result of the mutation, salt and water levels decrease in the
mucus, which leads to it being thick and sticky. With the mucus being thick and sticky, it clogs the respiratory system and the digestive system. The severity of CF is caused by the type of mutation in the gene, which is why CF symptoms may vary from person to person. It’s because many different mutations can happen in the CFTR gene.
Each person has 2 CF genes, one from the mother, and the other from the father. If the mother and father both have a copy of the mutated CF gene, then there are 3 possibilities for the offspring. A 25% chance that the offspring inherits 2 mutated copies of the CF gene, then the offspring will develop CF and its symptoms since CF is a recessive disorder. For the recessive disorder to show, both mutated genes from both parents need to be present in the offspring. There is a 50% chance that the offspring inherits a mutated copy and becomes a “carrier”. Carriers don’t develop CF symptoms but can pass the gene onto their children. There is also a 25% chance the offspring will inherit only the normal genes. This means that the offspring has not inherited the mutated gene and therefore will not pass the mutated gene on. Although CF affects all races, it is more common to Caucasian people whose ancestors came from Europe. However, it is less common in African Americans, Native Americans, and Asian Americans. Cystic Fibrosis affects about 30,000 young adults and children in the US and about 2,500 babies are born with CF every year.
Now we know how CF is caused, but what impacts does it impose on our bodies? CF affects the digestive system and respiratory system the most. In the digestive system, the thick, sticky
mucus blocks the tubes for the digestive enzymes in the pancreas needed to break down the food in the intestines to absorb the nutritional materials that the body needs. Thus, digestive enzymes cannot properly break down the food, so fats, proteins, and carbohydrates are not absorbed into the body, this is called malabsorption. Malabsorption can lead to weight loss and malnutrition. Without the body absorbing the proteins and fats, the body cannot intake important vitamins and proteins for growth and body tissue repair. Eventually, the pancreas is sealed off by scar tissue, which leads to pancreatic insufficiency, which can lead to abdominal swelling and lack of insulin production which can lead to CF-related diabetes. Common symptoms are fatigue, constipation, lack of growth in height and weight loss. This is because of malabsorption, the body isn’t absorbing the nutrients needed to gain weight, to grow or have energy. Another symptom is foul-smelling bowel movements. This is because the fats are not digested properly. Another symptom is clubbing, which is the swelling of the end of the fingers and to become rounder in shape.
In the respiratory system, lungs inhale oxygen supplying oxygen to the cells in the body to make energy. The thick, sticky mucus gets stuck in the lungs because it's too sticky, and the cilia in the ducts cannot move it out of the lungs. In the lungs, bacteria can become trapped in the mucus plug causing chronic infections. Lung infection can lead to progressive lung damage and inflammation, where inflammation can make even more mucus, which leads to more clogging. Common symptoms are breathlessness, coughing and wheezing, because the mucus interferes with the path of air. More symptoms are pneumonia, and frequent lung infections. This
is because of the bacteria found in the mucus, which causes infections that make even more mucus. Other symptoms include frequent sinus infections. Sinusitis is caused by the blockage in the sinuses from the mucus. In addition, sweat glands have a higher concentration of salt due to the transport problems of salt across the cell membrane. Therefore people with CF have saltier sweat and skin.
CF affects the body in the reproductive systems of men and women differently. In men, the vas deferens is either blocked off by mucus or is missing. This is called congenital bilateral absence of the vas deferens (CBAVD). The sperm is healthy, but there’s no way for the sperm to travel through the vas deferens to become semen. In women, their period may be delayed and they have thicker vaginal mucus, which makes it harder for the sperm to reach the egg. In both
reproductive systems, CF can delay puberty.
So CF is dangerous, but is there a cure? There’s no cure for CF currently, but there are treatments for the symptoms. When infants are suspected that they have CF, doctors will perform a sweat test because it’s easier and more accurate. They use mild electric currents on the forearms, with the addition of a chemical, to make the person sweat and analyze it for high levels of chloride. People with CF also can do some CF exercises and inhale supplements to help thin the mucus or to fight infection. A therapy vest may also help thin the mucus by shaking the chest. To help with sinus blockages, the person can also do sinus rinses to clear the sinuses. With digestion symptoms, doctors may also prescribe digestive enzymes and vitamin supplements since their
pancreas is blocked. CF patients also have to eat more since they can’t absorb all the nutrients of a single meal, even though they’re taking supplements.
To conclude, cystic fibrosis, a hereditary disorder that changes mucus that interferes with the body’s systems, especially the respiratory and digestive system.
Bibliography
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Rosick, E., DO, MPH, MS. (2016). Cystic Fibrosis. In T. Moy & L. Avery (Eds.), The Gale Encyclopedia of Genetic Disorders (4th ed., Vol. 1, pp. 497-505). Farmington Hills, MI: Gale. Retrieved from https://link.gale.com/apps/doc/CX3630400148/GVRL?u=38cels&sid=GVRL&xid=70ccafec
Jr., F. R. L. (Ed.). (2014, April). Cystic Fibrosis (for Teens). Retrieved from https://kidshealth.org/en/teens/cystic-fibrosis.html?ref=search.
University of Wisconsin Hospitals and Clinics Authority. (n.d.). What is Cystic Fibrosis (CF)? Retrieved from https://www.uwhealthkids.org/cf-center/what-is-cystic-fibrosis-cf/34311.
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