Lyly Ho

11/25/13
Nurs 4017
Disease Paper
Cystic Fibrosis

My disease paper is about Cystic Fibrosis (CF) and one of the major reasons why I
signed up for this disease is to learn more about it because I now have a friend
whose little sister is suffering through this as I am about to open my eyes to learn
about this life-threatening disorder. Even though Dr. Gundlapalli didnt discuss this
disease in his clinical immunology and infectious disease, I am thankful for this
opportunity to learn a little bit more about this disorder through my research. My
goal in this paper is to do the following: discuss the disease and its epidemiology;
find out which population is affected and the rates of incident; discuss the
signs/symptoms, diagnosis, and treatments; and last but not least, to find out if
theres any ongoing research about CF.

Cystic Fibrosis is an autosomal recessive genetic disorder that is passed down
through family members and it affects the respiratory, digestive, and reproductive
system in children and adults. It causes thick and sticky fluid to build up in the lungs,
breathing airways, digestive tracts and other parts of the body by characterizing
abnormal transport of chloride and sodium across an epithelium, leading to
uncontrollable viscous secretion (2). Mucus doesnt sound like it could do a lot of
damage to a person, but it can. Why? Because the collection of thick and sticky
mucus will result in an increased risk for infections and since the organs are covered
in this sticky infected mucus, it is harder for the immune system to work through
the stickiness and thickness.

Ive talked a little about its epidemiology above but I just want to clarify that a
person has to inherit this from his or her parents genes. The Cystic Fibrosis gene is
located on the long arm of chromosome 7, which encodes a 6.5 kilobase mRNA that
can cause a mutation in the transmembrane protein known as CFTR (Cystic Fibrosis
Transmembrane Conductance Regulator), resulting in a loss of amino acid
phenylalanine and causing improper functioning and thickening of secretions (1).
Many people carry the defective CF gene but do not experience any of the symptoms
and that is because a person has to inherit a defective gene from both parents in
order to be infected. That means, if each parent has one CF gene, the risk of each
pregnancy of a child born with or without the disease is 25 percent and 75 percent,
and the probability of being born healthy with one CF gene is 50 percent (4; Roth).

So, that leaves the question, how to do I know I have CF? Well, there are a lot of
indications and ways to find out. One way is through the obvious signs and
symptoms of CF. The hallmark signs of symptoms of this disease that Ive found
repeated on different sources include delayed growth in children, failure to gain
weight normally, salty tasting skin (1; Web), accumulation of thick, sticky mucus,
frequent chest infections, increased coughing, and shortness of breath. Other
symptoms Ive found was fatigue, nasal congestion, fever, sinus pain, stools that are
pale or clay colored, etc (5. Narang).

Other factors might not be so obvious but a person could always go see a doctor to
get a diagnosis or get genetic testing done. Usually, in order to get a diagnosis from a
doctor, a person must have one or more symptoms of CF or has a family history of it.
Once the doctor is given a possible factor, the doctor can proceed with screening
and testing. Screening tests include chest x-rays, lung function, phlegm cultures, and
stool examinations to detect abnormalities (1; Web). The most common test for CF
is high salt levels in a persons sweat, measured by the sweat sodium chloride test.
Other tests such as the IRT (immunoreactive trypsinogen test) are used to analyze
blood if the child does not produce sweat or one can take the molecular genetic
testing, which involves direct DNA analysis that can be 80-85 percent accurate (7;
Holland).

Cystic fibrosis is the most common life-limiting autosomal recessive disease among
people of Caucasian heritage (4; Roth). According to data collected by the Cystic
Fibrosis Foundation, about 30,000 Americans, 3000 Canadians, and 20,000
Europeans have CF (6). To be more specific, the disease occurs mostly in Caucasian
whose ancestors came from northern Europe. Although it affects all races and
ethnic groups, it is less common in Hispanic Americans, African Americans, and
Asian Americans. The rates are approximately 1 in 46 Hispanics, 1 in
65 Africans and 1 in 90 Asians carry at least one abnormal CFTR gene (2). I thought
it was interesting to find out that Ireland has the world's highest incidence of cystic
fibrosis (at 1:1353) and more than 10 European countries are affected with CF. In
the United States, about 2500 babies are born with CF each year (6) and about 1 in
every 20 Americans is an unaffected carrier of an abnormal CF gene (2). I know that
is a lot to absorb in, but typing that made me worry a little because that means there
are millions of people who have a mutated CFTR gene, which makes the number of
CF growing larger as I type!

Cystic Fibrosis has been killing people for the longest time and no one really knew
about it until the 1930s. Even during this period of time, people didnt know what to
do with the disease but to watch their loved ones die at such a young age. In modern
medicine, we now know that there is not cure for Cystic Fibrosis yet, but there are a
lot of treatments available for those who are suffering through CF. These minor
treatments wont get rid of the disease but it will provide a better life-style for the
patient. Treatment for CF patients include antibiotic therapy, mucolytic agents,
bronchodilators, anti-inflammatory agents, pancreatic enzyme and ursodeoxychlic
acid replacement, nutritional support, oxygen supplementation, and physiotherapy
(2). With these treatments, a person could live up to 30-40 years, instead of dying
within days of birth like the olden days.
Since 1955, the Cystic Fibrosis foundation has been driving force behind the pursuit
of cure. Thanks to the dedication and financial backing supporter- patients, families
and friends, clinicians, researchers, volunteers, individual donors, corporations and
staff, we are making a difference. Cystic fibrosis is an autosomal recessive disorder
that affects the most critically the lungs, and also the pancreas, liver and intestine. It
is characterized by abnormal transport of chloride and sodium across an epithelium,
leading to thick, viscous secretions. Males can be infertile sue to congenital absence
of the vas deferens. Symptoms often appear in infancy and childhood such as bowel
obstruction due to meconium ileus in newborn babies. Mucus in the paranasal
sinuses is equally thick and may also cause blockage of the sinus passages. Mucus n
the nasal cavity is equally thick and may also cause blockage of the sinus passages,
leading to infection. Cardiorespiratory complications are the most common cause of
death in patients at most CF centers in the United States.

From the beginning, I didnt know much about Cystic Fibrosis but after doing this
disease paper, I noticed that CF has been a huge topic people are trying to
understand; and there are plenty of on-going researches about this disease up until
today. One researcher talked about how mucus could be beneficial in fighting
against bacteria and another discovered that blood vessels are now being impaired
in CF patients even though lung function is okay now. There are always new findings
with this disease and I think every persons goal right now is to find a cure for the
disease. I recently read a magazine that talked about gene therapy and how it could
a potential cure for CF but it is still an on-going process so its still a mystery. Cystic
Fibrosis is an interesting topic and I learned so much about it, but I really hope
someone genius out there can defeat the odds and find a cure for this progressive,
devastating disease.