Cystic Fibrosis Ries !

Megan Ries

Dr. Doe

Human anatomy and physiology

April 29, 2018

Cystic Fibrosis

Cystic Fibrosis is a genetic disease that causes build up of mucus in the lungs, pancreas

and other organs (“About Cystic Fibrosis”). The mucus clogs the airway of the lungs and traps

the bacteria inside, this is why people with cystic fibrosis have persistent lung infections

(“About Cystic Fibrosis.”). The buildup of mucus in the pancreas can lead to prevention of the

release of the digestive enzymes that are vital for the body to breakdown foods and absorb the

nutrients, which can lead to malnutrition and weight loss (“About Cystic Fibrosis.”).

Cystic fibrosis is a rare genetic disease, only about 30,000 people in the United States

have cystic fibrosis (“About Cystic Fibrosis.”). People that have cystic fibrosis inherited two

copies of the defective gene, one from each parent (“About Cystic Fibrosis”). People with one

copy of the defective gene are considered carriers (“About Cystic Fibrosis.”). Carriers don’t

have the disease, but if two carriers have a child together, there is a 25 percent chance the child

will have cystic fibrosis (“About Cystic Fibrosis.”). Being a carrier is much more common than

having the disease, about 10 million people in the United States are carriers (“About Cystic Fi-

brosis.”).

Cystic fibrosis transmembrane conductance regulator (CFTR) protein is the gene that,

when mutated causes cystic fibrosis. (“Types of CFTR Mutations.”). This protein regulates the

flow of salt and fluids in and out of the cells in the body (“Types of CFTR mutations”). Muta-
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tions in the CFTR gene causes the CFTR protein to malfunction or not be made at all, which

leads to the buildup of all the mucus in the lungs (“Types of CFTR Mutations.”). The results in-

clude lung infections, destruction of the pancreas and complication of other organs.

There is more than 1,700 known mutations that cause cystic fibrosis (“About Cystic Fi-

brosis.”). Scientists have grouped together these different mutations into several classes. The

classification system for all the classes of mutations are grouped together by the problems they

cause regarding production of the CFTR protein (“Types of CFTR Mutations.”). Class one is

protein production mutations (“Types of CFTR Mutations.”). Class one mutations include non-

sense and splice mutations. In nonsense mutations, the protein-building instructions in the

CFTR gene contains an early stop signal causing the production of the CFTR protein to stop too

early (“Types of CFTR Mutations.”). Stopping the production of the CFTR protein too soon re-

sults in a non-functional protein. In splice mutations, the cells can’t correctly read the instruc-

tions to make the CFTR protein. This type of mutation interferes with the ability to tell where to

begin or end the reading. As a result, the cell will leave in some irrelevant letters or take out

some relevant ones (“Types of CFTR Mutations.”). When the cells tries to follow the RNA in-

structions, it will be unable to build a correct CFTR protein because of the splicing in the cod-

ing. Class two is protein processing mutations (“Types of CFTR Mutations.”). Class two muta-

tions happen when an amino acid in the CFTR protein chain is added or deleted. When this oc-

curs the CFTR protein cannot form its correct 3-D shape and will not function properly. The

most common cystic fibrosis mutation is the F508del mutation, a processing mutation that re-

moves a single amino acid from the CFTR protein (“Types of CFTR Mutations.”). Class three is

gating mutations. This mutation affects the gate, which allows chloride to flow through the
Cystic Fibrosis Ries !3

channel (“Types of CFTR Mutations.”). Gating mutations force the gate to stay in a closed posi-

tion, inhibiting chloride to flow through. Class four is conduction mutations (“Types of CFTR

Mutations.”). In this type of mutation the tunnel in which chloride flows through is changed, so

that chloride cannot move as easily through the tunnel (“Types of CFTR Mutations.”). Lastly,

class five is insufficient protein mutations. This type of mutation shows a reduced amount of

normal CFTR protein on the cells surface (“Types of CFTR Mutations.”). This occurs because

of a limited amount of CFTR is being produced, only a small amount of the protein on the cells

surface works correctly, or the normal protein at the cells surface breaks down too quickly,

which leaves only a small amount of proteins behind (“Types of CFTR Mutations.”).

The majority of people with cystic fibrosis are diagnosed by the age of 2 through new-

born screening tests (“Diagnosing and Treating Cystic Fibrosis.”). If a newborn tests positive

through the screening, a chloride sweat test is conducted to be fully diagnosed (“Diagnosing and

Treating Cystic Fibrosis.”). However, some people may be diagnosed as adults, through sweat

chloride tests and genetic testing as well.

The type and severity of the symptoms of cystic fibrosis can differ from person to per-

son. Some of the most common symptoms can include very salty-tasting skin, persistent cough-

ing with phlegm, frequent lung infections, shortness of breath, poor weigh gain and growth,

nasal polyps, chronic sinus infections, and male infertility (“Diagnosing and Treating Cystic Fi-

brosis.”). Male infertility occurs in almost all men with cystic fibrosis. This happens because the

tube that connects the testes and prostate gland becomes blocked with mucus or is not present at

all. But with fertility treatments and surgical procedures it can be possible for a man with cystic

fibrosis to become a father (“Cystic Fibrosis.”). Most women with cystic fibrosis will have nor-
Cystic Fibrosis Ries !4

mal hormonal functions and reproductive tracts, but even then women can have some common

reproductive health issues (“About Cystic Fibrosis”). This can include a fungal vaginitis from

all the antibiotics that are taken on a daily basic, stress incontinence, and absent or irregular pe-

riods (“About Cystic Fibrosis.”)

There is no cure for cystic fibrosis but there are several ways in which it is treated and

controlled. Airway clearance therapy, is a therapy in which a device called the “VEST” shakes

the mucus in the airways and enables the person to cough it up (“Diagnosing and Treating Cys-

tic Fibrosis.”). Medications can also help to control the mucus in the lungs. Medications like

albuterol can relax the airways and help clear the mucus. Pancreatic enzyme replacement thera-

pies are also important to help the body absorb food and necessary nutrients (“Diagnosing and

Treating Cystic Fibrosis.”). These enzymes are taken before every meal or snack and vitamins

need to be taken as well. Salt also needs to be added to food or in a formula for infants.

Antibiotics are needed to treat the bacteria growth in the mucus (“Diagnosing and Treat-

ing Cystic Fibrosis.”). These antibiotics can be taken in one of three ways; orally by mouth

which is the cheapest and easiest way, by inhalation of medications called bronchodilators, this

is more expensive than pills but is an effective method, and lastly antibiotics can be taken intra-

venously (IV) which is not as common because it is reserved for patients who are sicker (“Diag-

nosing and Treating Cystic Fibrosis.”). Anti-inflammatory medications can be helpful for people

with cystic fibrosis. Azithromycin is being used in people with cystic fibrosis, which is an an-

tibiotic that’s used as an anti-inflammatory and ibuprofen can be taken as well (“Diagnosing and

Treating Cystic Fibrosis.”). If a person with cystic fibrosis becomes terminally ill due to lung

infections, then a lung transplant may be an option. The timing of the transplant is crucial be-
Cystic Fibrosis Ries !5

cause transplanting too early shortens the survival of the patient and transplanting too late may

result in death (Proesmans).

One breakthrough treatment that has arisen over the past 20 years is personalized medi-

cine, which involves medications and therapies that are specifically targeted for the mutation the

patient has. This means the doctors will be able to tailor therapies and medicines for patients

based on their genetic makeup. About 60 percent of people with cystic fibrosis are benefiting

from this type of personalized medications, which are known as “modulators” (“About Cystic

Fibrosis.”). There are currently two different modulators being prescribed; ivacaftor and

lumacaftor/ivacaftor. Researchers are working on a method called “theratyping”, which is being

used to try to increase the number of mutations these drugs are approved to treat by matching

therapies or medicines for each type of mutations. This will allow even more people with cystic

fibrosis to benefit from these personalized medicines (“About Cystic Fibrosis.”). The Mutation

Analysis Program, funded by the cystic fibrosis foundation provides a free genetic testing pro-

gram for people that have the disease and want to know what specific mutation they have. This

is beneficial because it allows the doctors to tailor to their specific mutation for therapies and

medications (“About Cystic Fibrosis.”).

Living with cystic fibrosis can be difficult, but with recent advancements in research

many people with the disease have lead normal lives. These breakthrough treatments have

added years to lives of those with cystic fibrosis. Now the median age predicted to survive is

close to 40 years old, compared to the 1950’s where a child rarely survived long enough to at-

tend school (“About Cystic Fibrosis.”).

Works Cited

“About Cystic Fibrosis.” CF Foundation, www.cff.org/What-is-CF/About- Cystic-Fibrosis/.

“Cystic Fibrosis.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 13 Oct.

2016, www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes

syc-20353700.

“Diagnosing and Treating Cystic Fibrosis.” American Lung Association, www.lung.org/lung-

health-and-diseases/lung-disease-lookup/cystic-fibrosis/diagnosing-and-treating-cf.html.

Proesmans, Marijke, et al. "What's New in Cystic Fibrosis? From Treating Symptoms to Correc

tion of the Basic Defect." European Journal of Pediatrics, vol. 167, no. 8, Aug. 2008, p.

839. EBSCOhost, doi:10.1007/s00431-008-0693-2.

“Types of CFTR Mutations.” CF Foundation, www.cff.org/What-is-CF/Genetics/Types-of-

CFTR-Mutations/.