The Treatment Of Cystic Fibrosis

The Treatment Of Cystic Fibrosis
I couldn't imagine what it would be like growing up with a life threating condition that has no cure. Amanda Estep is a 21–year–old, college student and
also a close friend of mine who has been battling Cystic Fibrosis since she was three years old. Cystic Fibrosis is a genetic condition that causes mucus
to build up in the lungs and digestive system, making it hard to breath. "Basically everything in my body is thicker, so the mucus in my lungs is harder
to break up and get out which causes frequent lung infections." Amanda explained to me. Cystic Fibrosis also impacts her ability to digest food,
resulting in her being underweight most of her life. While I have known Amanda since kindergarten, we have never talked in depth about how much
she has to do to remain as healthy as possible. Hearing her explain her story made me realize how lucky I am to be healthy, and that's something's no
one should take for granted. There is currently no cure for Cystic Fibrosis, but Amanda shared some of the many things she has to do in order to
remain as healthy as possible. Some of those things includes being hospitalized for two weeks four or five times a year, taking many medications, and
knowing how hard she can push herself.
Amanda's hospital visits started when she was three years old. Every few months Amanda has to go in for what she calls a "tune up". This is a two
week, sometimes longer, hospital stay where she is monitored, given antibiotics, and does at least four breathing
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Cystic Fibrosis Essay
Cystic Fibrosis is a severe hereditary disease that infects the lungs, digestive system, sweat
glands and male fertility. The name Cystic Fibrosis derives from the Fibrous scar tissue that
develops in the pancreas. First recognized in 1938, cystic fibrosis is generalized as an autosomal
recessive disorder of the exocrine glands. About one in every 2500 Caucasians is affected, and
one in 25 is a carrier of the cystic fibrosis gene. Cystic fibrosis is the most common fatal
hereditary disorder of Caucasians in the United States and is the most common cause of chronic
lung disease in children and young adults. Approximately 38,000 children and young adults in the
United States today. About 3,000 babies are born ... Show more content on Helpwriting.net ...
Few people know they are
carriers unless they have family history of the disease. Two white Americans with no family
history of CF have a one in 2500 chance of having a child with CF (Berhow 245).
The most severe effects of cystic fibrosis are seen in two body systems; the gastrointestinal
(digestive) system and the respiratory tract. CF also affects male fertility and the sweat glands.
Effects in the digestive system are often the first to appear. About fifteen percent of babies who

inherit CF have meconium ileus at birth. Meconium is the first dark stool that the baby produces
after birth. Ileus is an obstruction of the digestive tract (Claymen 437). Meconium, the dark
green stool, is thick and sticky, due to the presence of thickened mucus from the intestinal glands.
Meconium ileus causes abdominal swelling and vomiting. The presence of meconium ileus is
highly indicative of CF. Babies who have meconium ileus almost always develop symptoms of
CF. The respiratory tract includes the nose, the throat and the windpipe. Nasal polyps,
Bronchitis, pneumonia and shortness of breath are frequent recurring respiratory problems in
someone with CF (Claymen 438)
The first symptom of CF in infants without meconium ileus, is often poor weight gain at 4
to 6

Causes And Treatment Of Cystic Fibrosis
Carlos and Mollie are thinking about having a child but they both disagree on one factor. Carlos is a carrier of Cystic Fibrosis and had a brother
who had the disease. Carlos would like Mollie to get test for Cystic Fibrosis before having a child. Mollie is unsure about being tested but agreed to
think about it. Cystic Fibrosis affects over 50,000 people in the United States, Canada and Europe (3). One in every twenty Americans are carriers of
Cystic Fibrosis, approximately twelve million people are unaware they are carriers (3). Cystic Fibrosis is autosomal recessive inherited disease that
causes chronic respiratory and digestive problems (3). Additionally, Cystic Fibrosis affects the sweat glands and the reproductive system (2).
To ... Show more content on Helpwriting.net ...
Mutation of the Cystic Fibrosis gene affects the protein responsible for movement of chloride ions through the cell membranes (3). This protein is
called CFTR, cystic fibrosis transmembrane regulator (3). CFTR is located on chromosome 7 and is 250 kilobases long. CFTR has about 1900
mutations that are split up into six classes (6). Common classes are class I that are stop mutations and class II (6). Class II are mutated CFTR that
are recognized as abnormal by the cell's "control system"; the most common mutation for Cystic Fibrosis belongs to this class (6). CFTR is
present in cells at the passageways of lungs, pancreas, colon and genitourinary tract (3). More specifically, the mutation that causes Cystic
Fibrosis has a deletion of three base pairs in the gene (3). There are 400 plus mutations responsible for causing Cystic Fibrosis as of 1995 (3).
Cystic Fibrosis is an autosomal recessive inherited disease (30. Meaning that there needs to be a presence of two abnormal or mutated genes to
cause Cystic Fibrosis, one from mother and one from the father (3). Thus, the normal gene is dominant over the recessive mutated gene (2). These
genes are only inherited from parents who are carriers (Gg) or have the disease (gg) (3). Carriers of Cystic Fibrosis have the presence of the mutated
gene (g) but do not have Cystic Fibrosis (3). If two people who are carriers of Cystic Fibrosis (Gg) reproduce, their offspring have a 25% chance of
getting Cystic Fibrosis (1).

Cystic fibrosis Essay
Template Informative Speech Outline
*Title: Cystic Fibrosis
*Specific Purpose: To inform my classmates about cystic fibrosis and how severe it really is.
*Thesis Statement: Cystic Fibrosis is a disease that is slowly killing our children and the question is how can we help these children in their times of
need?
Introduction
Attention–getter: How many people love children? how would you feel if you knew that a mass majority of our youth has been born with and/or died
from cystic fibrosis?
Preview: Today I will be discussing the what is cystic fibrosis, how it affects our youth, and ways to back to those we have lost.
Body
I. First main point – What is Cystic Fibrosis?
A. Cystic Fibrosis is a life long hereditary disease that ... Show more content on Helpwriting.net ...
They are also accompanied by many medicines and other treatments to help them with the comfort of cystic fibrosis.
Transition: Now that we have discussed the ways this disease affects our youth, lets dig deeper into the ways we as a whole can help these children in
their times of need. III. Third main point– How do we give back to those we have lost and those who are still living?
A. One of the most important ways to give back to children who have died are the active activities led by certain foundations such as the Cystic
Fibrosis Foundation or the Cystic Fibrosis Lifestyle Foundation. This foundation has many branches around the country and does CF walks, CF
cycle for life, CF climb and more. Also helping volunteer by raising awareness and letting people know that this disease needs a cure and the only
way to do that is to be aware, donate your time, and perhaps a few dollars.
B. A beneficial way to give back to those whom are still alive would be to go to the hospitals and visit the children. These children know they have
family support and maybe even friends; but there is nothing in this world like having someone who barely knows you coming to make sure that your
day is just a little brighter. It gives these kids joy to know that people do care besides their families and that people give their time to ensure that
although this disease is killing you, it can not take away your happiness.
Conclusion

Cystic fibrosis is a hereditary disease of the secretory glands (National Heart, Lungs, and Blood Institute[NHLBI] , "What Is Cystic Fibrosis?", 2013).
People who have cystic fibrosis inherit two defective genes, one from each parent (NHLBI , "What Is Cystic Fibrosis?", 2013). The body parts affected
by cystic fibrosis are the lungs, pancreas, intestines, sinuses, and sex organs (NHLBI , "What Is Cystic Fibrosis?", 2013). The gene at fault for causing
cystic fibrosis is the CFTR (cystic fibrosis transmembrane conductance regulator) gene (Genetics Home Reference, "CFTR gene", 2014). The
transport of salts and chloride in and out of the cells is affected by the mutation of this gene (Cystic Fibrosis Research Inc., "About Cystic Fibrosis").
This disease most commonly affects Caucasians of North European descent (NHLBI , "What Is Cystic Fibrosis?", 2013). ... Show more content on
Helpwriting.net ...
This increases bacteria growth and causes infections (NHLBI, "What Are the Signs and Symptoms of Cystic Fibrosis?", 2013). These infections can
clog the airways and damage the lungs making it difficult to breath (NHLBI, "What Are the Signs and Symptoms of Cystic Fibrosis?", 2013). The signs
and symptoms of cystic fibrosis according to the Cystic Fibrosis Foundation are very salty tasting skin, persistent cough with sputum, frequent lung
infections, wheezing, shortness of breath, poor growth, constipation, greasy,bulky stools(Cystic Fibrosis Foundation [CFF], "About CF: Causes, Signs
& Symptoms of Cystic Fibrosis | CF Foundation",

Cystic Fibrosis Case Studies
Five year old Ellis Miles undergoes numerous treatments each day to counteract the symptoms that accompany cystic fibrosis including physiotherapy,
pills containing digestive enzymes, and a treatment which breaks up the mucus in her lungs. Cystic Fibrosis has numerous life threatening symptoms
and while there is no cure, there are several treatments that a typical patient undergoes each day to combat these symptoms. The most prominent
symptom associated with Cystic Fibrosis is a thick mucus that clogs up tubes that carry out crucial roles in the human body. This mucus especially
affects the respiratory tract. Mucus builds up in the respiratory tract making it difficult for individuals with cystic fibrosis to have a frequent cough that
produces a thick ... Show more content on Helpwriting.net ...
This mucus build up also causes wheezing and difficulty breathing. Recently, it has become more common for individuals with cystic fibrosis to
receive lung transplants during the end stages of lung disease. As mentioned, the symptoms of cystic fibrosis are life threatening, and the majority of
deaths are the result of respiratory failure after battling lung diseases and infections that come as a result of the mucus build up. The life expectancy
for an individual with cystic fibrosis ranges in the mid–thirties. Another symptom that comes as a result of cystic fibrosis is digestive issues. The thick
mucus that affects the respiratory tract also often blocks the tubes that are crucial to digestion because they carry digestive enzymes. Without these
digestive enzymes being transported to the small intestine, individuals with cystic fibrosis cannot fully absorb the nutrients they eat. These digestive
issues lead to reduced weight gain and growth in individuals with cystic fibrosis as well as severe constipation. In some cases, the large intestine may
begin to protrude, a symptom referred to as rectal prolapse, and may need to

CF is caused by an inherited recessive genetic defect that is most prevalent in the white population. About 1 in 23 people in the United States carry at
least one defective gene, making it the most common genetic defect of its severity. CF patients suffer from chronic lung problems and digestive
disorders caused by a cellular defect in the transport of chloride ion. The problem in chloride handling results in loss of chloride in sweat which, in
fact, is the basis for the clinical diagnosis of CF. As a consequence of the lesion in chloride transport patients' lungs become covered with sticky mucus
which is difficult to remove and can promote infection by bacteria. Many people with CF require frequent hospitalizations and continuous usage of...
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The following are a few common myths and truths about Cystic Fibrosis: Cystic Fibrosis is contagious.
False, CF is not contagious. It is a disease that is genetically inherited by the child from his or her parents who either have the gene or are carriers of
the gene.
The gene that codes for Cystic Fibrosis has been found.
True, the gene that produces the cystic fibrosis transmembrane conductance regulator protein, CFTR, is known. A defect in this protein interferes with
the transport of chloride through the proper channels.
Cystic Fibrosis is not very common in the United States.
False, CF is the most common fatal genetic disease in the U.S. today. There are over 30,000 people affected with CF in the United States.
There is a cure for Cystic Fibrosis.
False, there is no cure or control for CF. There are however, treatments for the symptoms and effects of CF that help the patient live a somewhat
"normal" life.
Cystic Fibrosis interferes with the correct functioning of many organs in the body.
True, the airways, pancreas, liver, sweat glands, skin and small intestine are some of the organs that do not function properly due to the blockage of
ducts or tubes necessary for the correct functioning of these organs.
There is an identification process to tell if a person is a carrier of Cystic Fibrosis.
False, a person typically does not know if he or she could be a carrier of CF unless an immediate family member is

Cystic Fibrosis Pathophysiology
Describe the pathophysiology and signs and symptoms of cystic Fibrosis (CF). Kaneshiro describes cystic Fibrosis as a system wide disease
process that affects the mucous production of organs from the time of birth, most commonly affecting the lungs and intestines (2014). He goes on to
say that this is a hereditary disease that is most commonly found in the first 2 years of a child's life and the symptoms start out as mild and can be
easily overlooked, which accounts for the late diagnosis even though the disease started at birth (2014). The most common early life symptoms
include a lack of stools in the first couple of days after birth and salty tasting skin though as the child ages there is a significant lack of developmental
growth and lack of weight gain along with frequent respiratory infections and constipation (Kaneshiro, 2014). The life expectancy of a child with CF
currently is at around 37 years old when that child receives extensive early treatment for the side effects of CF, though there is no cure at this time,
though the treatments are getting more effective every year (Kaneshiro, 2014).... Show more content on Helpwriting.net ...
This protein is in charge of the movement of water and sodium ions through channels, giving substances like mucus a thick or thin concentration by
moving the substances through the channels as needed (Cystic Fibrosis, 2015). Though it is known as a gene that can cause cystic fibrosis, it is not the
only condition that can be a result of this mutation and if a mutation is found on this gene it is not a definite result that the child will have CF and will
need further testing in order to determine what the physical manifestation of the mutation will be (Cystic Fibrosis,

What is Cystic Fibrosis?
Cystic fibrosis is an autosomal recessive genetic disorder characterised by a mutation in the cystic fibrosis transmembrane conductance regulator
(CFTR) protein which acts as a chlorine channel that regulates water and ion levels across the epithelia. Cystic fibrosis can affect sweat glands, the
respiratory system, digestive system and the reproductive system. In the lungs defects in the CFTR protein results in airway surface liquid depletion,
triggering a cascade of events resulting in infection and inflammation [1]. This essay will discuss the molecular mechanisms involved in cystic fibrosis
and outline the symptoms and possible treatment available and being developed.
Cystic Fibrosis is the result of a genetic mutation in the CFTR gene on chromosome 7. This disease is more common to the Northern European
population, with over 1500 different mutations that can occur on this gene. The most common is a deletion of phenylalanine at position 508 (О”F508)
[2] – this occurs in 66% of cystic fibrosis patients [1]. The cystic fibrosis transmembrane conductance regulator (CFTR) protein is an ATP gated
chlorine ion channel found in epithelial cells at the apical surfaces. It belongs to the ATP–binding cassette (ABC) membrane transporter superfamily[4]
and contains two membrane spanning domains, consisting of six transmembrane О±–helices, and two nuclear binding domains (NBD) whose activity
are regulated by the R (regulatory) domain (fig.1).
Regulation of the CFTR protein is governed

Cystic Fibrosis Pathophysiology
Pathophysiology
Cystic Fibrosis (CF) is an autosomal recessive gene that causes a wide range of symptoms because there are over 1,000 changes or mutations that can
occur within the cystic fibrosis transmembrane receptor (CFTR) protein. The CFTR protein is generally a chloride ion chain "regulated by cyclic
adenosine monophosphate and therefore can act as a regulator of other electrolyte channels"(Grossman, S., & Grossman, L. 2005, p. 46). Typically this
protein allows chloride ions to exit mucus–producing cells allowing water to flow in and thin the mucus. However, if the CFTR protein has been
mutated, such as in cystic fibrosis, chloride ions cannot exit. This causes the mucus to thicken, become sticky, and obstruct the various channels it
passes through. This build up of mucus also prevents bacteria from being cleaned from cells thoroughly increasing the patients risk for infections
(Grossman, S., & Grossman, L. 2005). However, the severity of CF depends on whether the patients have complete or partial loss of the CFTR gene.
If the person has the classic form of CF abnormalities of CFTR will commonly affect "...the respiratory, gastrointestinal, endocrine and metabolic, and
genitourinary systems"(Schram, C. 2012). However, if people have atypical forms of CF their genetic disorder may only affect one of the organ
systems and may not be found until the patient develops symptoms in their late childhood, early adolescence, or adulthood

Summary: Cystic Fibrosis
Current: OrkambiВ® (ivacaftor and lumacaftor): Other Pulmonary
i. Cystic Fibrosis (CF) affects those that are homozygous recessive for the F508del mutation in the CFTR (Cystic Fibrosis transmembrane conductance
regulator) gene ii. 2004: Ivacaflor (VX–770), Brand name: Kalydeco, a CFTR (cystic fibrosis transmembrane conductor regulator) potentiator
discovered at Vertex Pharmaceutical Incorporated iii. 2005: VX–770 clears the pre–clinical trials leading to IND submission.
3–13–2006: IND submitted for fast track approval. VX–770 mechanism remains somewhat elusive, but is believed to promote the CFTR function by
developing between the Hydrolysis and the Gateway cycles.
5–04–2006: Fast track granted
12–20–2006: Orphan Designation granted iv. Orkambi is a superior drug to others on the market because it is the first drug to treat the cause of CF. It
uses selective ion channel modulators for the treatment of CF. With the support of theCystic Fibrosis Foundation Therapeutics (CFFT), the drug has
focused on two possible alternative approaches for CF treatment, known as "potentiator" and "corrector" ... Show more content on Helpwriting.net ...
There were two double–blinded, 24–week trials to make sure the product was safe to use on people age 12 and up. These people must have the
F508del mutation in order to be considered for the use of the drug. These two trials consisted of 1,108 patients receiving Orkambi, lumacaftor, or a
placebo. Though there were ten more patients in the second trial with the mean age of both groups being 0.1 years off from each other, the results
turned out to be the same. The patients that had the Orkambi treatment showed a significant improvement in their lung function. Studies on how BMI
was affected were also added into the benefits of taking Orkambi. Orkambi received a breakthrough therapy and a priority review was conducted on
this drug before the start of clinical trials and it took 6 months instead of the standard 10 months. The drug was tested to show health improvements and

Pseudomonas In Cystic Fibrosis
Contact with germs is a concern for people with cystic fibrosis. Sticky mucus build up in the lung allow these germs to thrive and multiple (About
Cystic Fibrosis, 2013). Pseudomonas aeruginosa is a gram–negative bacteria very commonly carried around by healthy individuals without any
symptoms. But for people who are ill and have weak immune systems, this bacteria can cause a deadly infection. Infection is hard to treat because
Pseudomonas aeruginosa can resist many antibiotics. Pseudomonas aeruginosa is spread easily in hospitals by health care professionals and
uncleansed medical equipment. This serious infection can cause pneumonia in the lungs and cause septic shock if released into the blood stream (CDC
2014). Therefore, the exposure to ... Show more content on Helpwriting.net ...
Breakthrough treatments have added years to people living with cystic fibrosis allowing them to go to college, pursue careers and have a family.
But, there is still no cure for cystic fibrosis causing many lives to be cut short. The type and severity of cystic fibrosis varies from person to person.
Thus, there is no typical treatment plan. People with cystic fibrosis work with medical professionals to create an individualized treatment plan. (About
Cystic Fibrosis, 2013). Today, people with cystic fibrosis have improved with

What Are Cystic Fibrosis?
What is cystic fibrosis?
Cystic fibrosis is a hereditary disease of the secretory glands that produce mucus and sweat. This is caused by mutations on chromosome 7 and can
affects the lungs, pancreas, liver, intestines, sinus and sex organs of the patients.
What are the symptoms of CF?
The signs of cystic fibrosis varies from person to person. With this disease, some experience the severity of conditions at adolescence while others will
not experience any symptoms until adulthood. The most prominent symptoms affect both the respiratory and digestive system.
Respiratory symptoms:
Those with cystic fibrosis often have a thick, sticky mucus that blocks the bronchi and alveoli which allow air in and out of the lungs. This mucus may
cause:
A ... Show more content on Helpwriting.net ...
Women who also have this disease may also have a fertility difficulties because of the production of a thick cervical mucus.
What is the genotype of this disorder?
Cystic fibrosis occurs as a mutation on Chromosome 7. These mutations causes little to no CFTR (Cystic fibrosis transmembrane conductance
regulator) and promotes the removal of 3 bases in DNA resulting in Amino acids to be unaccounted for. The CFTR gene creates 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 forms a protein that does not work well.
This causes thick, sticky mucus and high concentrations of salt in the sweat.
Mutations of CFTR Gene:
Over one thousand known defects can affect the CFTR gene. The type of defect one has affects the severity of cystic fibrosis. Other genes may also
play a role in the severity of the disease.
DeltaF508 is the most common mutation, accounting for about 70% of CF chromosomes worldwide. However, over 1,500 mutations have been
reported. These mutations cause there to be little to no functional CFTR to be produced.
As cystic fibrosis is a genetic mutation of chromosome

A Study On Cystic Fibrosis
Cystic fibrosis is due to a mutation in the gene that encodes cystic fibrosis transmembrane conductance regulator (CFTR) protein. It effects the exocrine
glands which are responsible for making mucus and sweat. It causes a thickening of the mucus in your body and increases the salt content of your
sweat. These can lead to problems including problems absorbing oxygen, lung infections, inhibit digestive enzymes from reaching your small intestine,
dehydration, increased heart rate, lower blood pressure, and infertility. It can also have an effect on reproduction, causing difficulty for women to
conceive and infertility in men. People who suffer with cystic fibrosis are also at a higher risk of getting diabetes, liver disease, osteopenia and ... Show
more content on Helpwriting.net ...
This test measures the salt content in a person's sweat. People that have cystic fibrosis have a much higher salt content in their sweat than someone
without the disease. Now, it can be detected sooner thanks to DNA testing which can detect if an infant has two altered copies of the Cystic fibrosis
gene. Cystic fibrosis effects oxygen intake. In the respiration process, you take in air from your mouth and nose which passes into the lungs, then
through the bronchi and the bronchioles. Once there, oxygen enters the body through alveoli, which are small air sacs. Your lungs and nose are lined
with cells that are responsible for secreting mucus, which is responsible for collecting germs and dust particles. Your body removes these substances
by coughing, swallowing and sneezing which keeps these passages clear of debris. With cystic fibrosis, the mucus in your body is much thicker,
making it more difficult to expel from the body. Rather than being expelled, this mucus remains trapped in the lungs allowing the germs to stick to the
walls of the lungs and coating the bronchioles. The body tries to kill the germs causing inflammation in the lungs. Between the inflammation and the
infections caused by the bacteria, the lungs develop scar tissue which damage the lungs even further. This cycle of damage further reduces the body's
ability to clear the lungs, which leads to increased lung damage and then eventually

The discovery of therapeutic molecules that target the underlying cause of Cystic Fibrosis, rather than the symptoms, has transformed the approach of
cystic fibrosis treatments. Two such sets of drugs are classed as correctors and potentiators. The latter set aim to target and augment the function of the
mutated CFTR channel that is present on the membrane. Class III and IV CFTR mutations benefit from this approach as they are defined as mutated
CFTR channels that, although present on the apical membrane, exhibit decreased, or no functional activity compared to functional CFTR channels.
Class III mutations are missense mutations that result in a reduce open time of the CFTR channels. This severe class of mutations include G551D and
S549R... Show more content on Helpwriting.net ...
Futures studies will be required to properly understand the interactions of the drug. A variety of clinical studies on the G551D mutation have shown
a wide range of positive effects from oral dosage of the drug testing a variety of age ranges. Ivacaftor showed improvements in forced expiratory
volume in 1 second (FEV1) for CFTR patients after treatment with ivacaftor for 48 weeks ranging from 8.7% median change from baseline in adults
(18 years and above) to 12.5% change in children aged 6–11 (P<0.001). Median sweat chloride levels also showed significant decrease in all age
groups above 6 years with results ranging from –49.1mmol/L to –59.5mmol/L (P<0.001) (Accurso et al., 2010) (Ramsey et al., 2011) (Davies et al.,
2013). Fewer patients on Ivacaftor treatment experienced a pulmonary exacerbation (PEx), however, on those patients who did experience a PEx
despite ivacaftor treatment, it did not improve their rate of lung function recovery after the PEx as compared to placebo (Flume et al., 2017).
Additionally, patients showed improve weight and BMI following ivacaftor dosage as compared to those on placebo with results showing between
2.7 to 2.8 kg weight gain of patients 6 years and above (Ramsey et al., 2011) (Davies et al., 2013). Interestingly, a new study investigated whether
ivacaftor also improved patient outcomes

Cystic Fibrosis : An Overview
University of Michigan–Flint
Cystic Fibrosis
An overview
Abdullah Alamri
BIO328
Summer 2014
Cystic fibrosis is an inherited disease that ultimately leads to death. It affects every racial group worldwide, but its prevalence varies from country to
country. In those with cystic fibrosis, the lungs and digestive system are primarily affected by the disease. With the new developments in treatment and
management, the 50 percent survival rate from the 1970's has greatly improved, allowing patients to continue to live their lives longer than ever
expected in the past. The new developments in prevention of exacerbations, therapy drugs and methods to preserve lung function have done great
things to help patients extend their lives. ... Show more content on Helpwriting.net ...
Unfortunately, since it is a recessive genetic disease, there are many men and women who are carriers of the disease without actually having the
disease themselves. If each parent is a non–affected carrier of cystic fibrosis, there is only a 25 percent chance of having a non–affected, non–carrier
child and 50 percent chance of having a child that is a non–affected carrier of cystic fibrosis. Unfortunately there is also a 25 percent chance of having
a child affected by cystic fibrosis. This makes prenatal genetic screening very important.
Pathophysiology
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 mucociliary clearance, this leads to
chronic infection and inflammation, which in turn leads to more impaired mucociliary clearance. It unfortunately becomes an endless

The Benefits Of Cystic Fibrosis
Oftentimes, the first thing that comes to mind when someone mentions an inherited genetic disease is cancer, or even diabetes. However, there are
hundreds and thousands of other inherited diseases that effect millions of people each year but are over–looked or underrepresented for various
reasons. An example of one of these disease is Cystic Fibrosis(CF). There is not much popularity associated with Cystic Fibrosis because there's
limited research on the topic. However, according to the Cystic Fibrosis Foundation, C.F. is a genetic disease that is essentially a severe cold that
never goes away. Mucus builds up in the lungs as well as the pancreas and can impair a persons breathing capabilities (About Cystic Fibrosis 1). Cystic
fibrosis is a ... Show more content on Helpwriting.net ...
revolves around mechanism by which neutrophils react in the body. According to Margaroli, C., and R. Tirouvanziam, neutrophils might not be the
tight and ridged leukocytes they were previous thought to be, rather they have a lot of elasticity when it comes to how they unfold in the tissues in the
body (Margaroli and Tirouvanziam 1). This neutrophil elasticity creates a perfect setting for diseased microenvironments to grow in the body which is
often associated with lung disease and C.F. (Margaroli and Tirouvanziam 1). In C.F. patient's neutrophils are often over worked and there is neutrophil
activity in the body's extracellular fluid which shows the relationship between the relationship of C.F. patients and this discovery of neutrophil activity
(Margaroli and Tirouvanziam 1). This innovation can lead to more knowledge about the activity and formation on neutrophils and show scientists more
about the underlying cause and potentially a cure/solution for C.F.
Between genetics, symptoms, pathology, treatments and new innovations, one could say Cystic Fibrosis is a loaded and complicated illness.
However, C.F. effects too many people for it to be forgotten about or underrepresented. With further research and new discoveries, every day we are
one set closer to curing this

The Disease Of Cystic Fibrosis
My research paper is going to be on the disease Cystic Fibrosis. Before I begin I want to
explain a little background as to why I chose this topic. My brother in law's brother lost his life
at the age of 23 to this disease and it was extremely harsh for the family, even knowing this
disease is incurable. It's one of those rare diseases that we cannot cure as of yet but many
doctors do research on how to overcome this. Just like any other incurable disease.
What is Cystic Fibrosis? The name of it can be broken down into medical word
terminology. Cystic means pertaining to cysts or characterization of them. Fibrosis means the
abnormal condition of fibrous tissue in an organ. This disease affects the lungs and the ability to
breath ... Show more content on Helpwriting.net ...
The pancreas also
helps make enzymes that digest food. When you have Cystic Fibrosis, the level of mucus ends
up blocking the ducts of the pancreas, reducing production of insulin and prevents digestive
enzymes from reaching the intestines to help with the digestive process. When you have
problems in your digestive system this can lead to diarrhea, malnutrition, poor growth and even

weight loss.
The history of Cystic Fibrosis dates back to the 1930's. People would realize that
children with "salty skin" often died in infancy and younger ages. "The disease was first named
in 1936 by pediatrician Guido Fanconi. A profile published by a Dorothy Hansine in 1938,
described the characteristics and symptoms of this disease and what exact organs it relates to.
However, this did not help prolong nor solve the issue or help assist in any treatments at the
time. It was finally discovered in 1949 by Dr. Anderson, that Cystic Fibrosis was a recessive
mutant gene. More advances were not made until the 1980's when researchers discovered
organ damage and the malfunctioning of the epithelial tissue were caused by this disease called
Cystic Fibrosis". ("Who discovered Cystic Fibrosis?" Page 1, http://reliawire.com/who–
discovered–cystic– fibrosis/). In the 1950's it was noticed at that time that patients were
suffering from excessive dehydration who were diagnosed with Cystic Fibrosis. This was

Symptoms Of Cystic Fibrosis
Overview: Cystic Fibrosis, or CF, is a genetic disease that affects children to young adults. It occurs when a child has two defective copies of the gene
that causes cystic fibrosis, one from each parent. The disease primarily affects the digestive system and it also affects the respiratory system, mainly the
lungs bronchi and bronchioles. Cystic fibrosis affects the cells that produce mucus and digestive juices, as it changes the protein that regulates the
movement of salt in and out of cells. Which leads to people thick and sticky mucus and digestive juices, such as pancreatic juices. Whereas people
who do not have CF have thin and slippery mucus and digestive juices. The severity of the disease differs from one person to the next, yet the ... Show
Symptoms of cystic fibrosis is persistent cough that are full of mucus, shortness of breath, weight loss and infertility or decreased fertility in both men
and women. Also, intestinal blockage can occur, where a part of the intestines folds in on itself.
Two or more of the symptoms might indicate that you have cystic fibrosis and a doctor might conduct a sweat test, which tests for how much salt is in
your sweat. If the salt levels are high enough, it might indicate cystic fibrosis. Other tests that can determine if you have cystic fibrosis is genetic
testing and newborn screening.
There is no cure for cystic fibrosis, but medication can be provided to help ease the symptoms that accompany the disease. Things like antibiotics can
treat and prevent lung infections. A person can also take mucus thinning drugs that help to improve lung functions, by helping you cough out the
mucus. Furthermore, a person can also take in pancreatic enzymes that help to digest food in the small intestines and stomach. If a person's intestine
folds in on itself, then the person would have to have surgery that removes the part of the intestine. If the blockages in the ducts in the lungs become
resistant to medication, or antibiotics, then the person might need to have a lung transplant. Cystic fibrosis does not occur in the set of lungs that have
been transplanted into

Cystic Fibrosis: A Scary Disease
Cystic fibrosis is a scary disease. The life expectance for people with cystic fibrosis is in batween thirties and forties. It was discovered in 1938. There
are more than 1,500 mutations that have identified in the single gene. The symptoms that infants or kids may have if they have cystic fibrosis is nasal
polyps, prolonged jaundice, severe malnutrition, and meconium ileus (bowel obstruction). The symptoms that are found in infants, children and adults
are production of bulky foul smelling stools, chronic respiratory infections, constant coughing, nasal polyps, and persistent coughing yellow and green
sputum. Other symptoms are coughing blood, recurrent: pneumonias, wheezing episodes. There are a bunch more symptoms these are just what most

Causes Of Cystic Fibrosis
Cystic fibrosis, a genetic disorder, is currently affecting more than 30,000 people in the United States (About). According to "What is a Genetic
Disorder?" (2014) "A genetic disorder is a disease that is caused by a change, or mutation, in an individual's DNA sequence." Cystic Fibrosis is an
uncommon but serious disorder that causes consistent lung infections and limits the ability to breathe overtime. It affects the exocrine glands, which
play a crucial role in regulating body temperature by producing sweat and many substances. It causes unusual heavy mucus, leading to blockage in the
pancreatic ducts, intestines, bronchi, resulting in respiratory infection (About). Cystic fibrosis affects many people, and it has a specific mode of
inheritance, ... Show more content on Helpwriting.net ...
Doctors can then confirm the diagnosis by using what is called a "sweat test." A sweat test measures the amount of salt that is in the sweat. Doctors
will trigger the sweat on a small patch of skin on the arm or leg (MFMER, 2016). Other tests consist of a chest x–ray, lung function tests, or a spit test.
There is many treatments that a doctor can do to help lessen the symptoms of CF, but at this point there is no treatment that can cure you from CF. The
sooner you catch these symptoms and try to counteract them with treatments the better off you are. Newborn screening helps with early diagnosis.
There's medications such as antibiotics that treat and prevent lung infections. Doctors also use anti inflammatory medications to lessen swellness for
airways to the lungs. Patients diagnosed with CF can inhale medications such as mucus thinning drugs to keep their muscles loose. (Diagnosed, 2016).
Lastly, there is chest physical therapy, vest therapy, surgery, and other procedures. Doctors are continuing to try to find a cure to CF, but as of right
now there is none. New data, research, and technology is helping reduce the amount of people devastated by this

Cystic Fibrosis : What It Is?
Have you ever heard of cystic fibrosis? If so, do you know what it is? Well, cystic fibrosis is an acquired issue that causes extreme harm to the lungs
and digestive framework. Cystic fibrosis influences the cells that deliver bodily fluid, sweat and digestive juices. These discharged liquids are regularly
thin and elusive. Be that as it may, in individuals with cystic fibrosis, a damaged quality causes the discharges to end up thick and sticky. Rather than
going about as a grease, the emissions attachment up tubes, channels and ways, particularly in the lungs and pancreas. Although, cystic fibrosis
requires day by day consideration, individuals with the condition can go to class and work, and have a superior personal satisfaction than in ... Show
In 1985 the gene causing cystic fibrosis was narrowed down to chromosome 7. This discovery paved the way for Professor Lap–Chi Tsui, Dr Francis
Collins and Professor Jack Riordan to identify the specific faulty gene responsible for cystic fibrosis, in 1985. The team 's discovery of what they
called the cystic fibrosis transmembrane conductance regulator (CFTR) is the single most important discovery in cystic fibrosis research to date.
During the 1990s evidence emerged confirming the dangers of cross–infection among people living with cystic fibrosis, which radically altered how
people thought about social contact within both CF centres and the wider cystic fibrosis community. Things have come along way since the
seventeenth century, when the salty taste found on a child with cystic fibrosis was considered a sign of bewitchment! Today, diagnostic tools such as
newborn and antenatal screening, and carrier testing, together with better understanding and treatment of the disease, has lead to increased life
expectancy and quality of life. Advances in technology and research continue to provide hope for the future in the fields of clinical care, and drug
therapy (Cystic Fibrosis Trust).
While humans have certainly died from CF for thousands of years, the first clear references to the disease extend back only a few centuries. European
folklore from the Middle Ages warned "woe is the

Cystic Fibrosis Research Paper
Cystic Fibrosis is a genetic disease that causes multiple lung infections and limits the ability to breathe over the span of a lime time. Cystic Fibrosis
causes a thick buildup of mucus in the lungs, pancreas, and other organs, so Cystic Fibrosis is not only a respiratory disease but can also cause
problems in the digestive system.
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

Cystic Disorders: Cystic Fibrosis
Cystic fibrosis is an existence restricting autosomal recessive disorder that influences 70,000 people around the world. The condition is known to
affect principally those of European descent, though cystic fibrosis has been accounted for in all races and ethnicities. [12] Unusually viscous
emissions in the airway of the lungs and in ducts of the pancreas in people with cystic fibrosis cause hindrances that prompt aggravation, tissue harm
and destruction of both organ systems. Studies show that Cystic Fibrosis is more prominent in White Americans than African Americans, and
Hispanics. A large number of Americans are carriers of this mutated Cystic Fibrosis gene, however if an individual is affected they must acquire two of
these genes keeping ... Show more content on Helpwriting.net ...
The bacterium creates a specific type of toxin that unlocks chloride channels within the small intestine. As sodium chloride (NaCl) leaves the cells,
water then follows, in a characteristic substance inclination to weaken the salt. Water surging out of intestinal cells leaves the body as looseness of the
bowels. Cholera opens chloride channels, giving chloride and water a chance to leave cells. The CFTR protein does the opposite, instead of opening
the chloride channel, it closes chloride channels preventing water and chloride from leaving the cells. [7] An individual with CF can't contract cholera,
in light of the fact that the toxin can't open the chloride diverts in the small intestine. It is truly beneficial that individuals with Cystic fibrosis has an
advantage when it comes to cholera, though today cholera has a treatment. Endeavors to stop the spread of cholera have been very successful;
nonetheless, a major example of overcoming adversity has been treatment endeavors that have radically diminished mortality during the present
pandemic. While cholera used to have a death rate >20%, with the improvement of oral rehydration treatment (ORT), the casualty rate for cholera has
dropped to around

What Is Cystic Fibrosis?
Cystic fibrosis is a genetic disease that affects the respiratory system, digestive/endocrine, and reproductive system. A defective gene produces an
abnormally thick mucus in the trachea and causes a blockage in the trachea, damages lung, and resulting in failure of the respiratory system. The
mucus also interferes with the pancreas, which it prevents the secretion of digestive enzymes that help dissolve food, causing difficulty in absorbing
nutrients. CF causes infertility, particularly in men. However, they are not sterile, therefore they can have children with assisted reproductive
techniques. In most cases, many of them are diagnosed with CF before the age of 2 because the newborns are screened immediately after birth. On the
other hand,... Show more content on Helpwriting.net ...
Dysfunction of the pancreas is treated with an enzyme replacement (provided by the artificial enzyme) and diet to improve absorption of vital

Cystic Fibrosis : A Defect
Running head: Cystic Fibrosis: A Defect in the CFTR Gene
Cystic Fibrosis: A Defect in the CFTR Gene Alexandra L Allen
Southern Union State Community College
RAD212: Image Evaluation and Pathology
Abstract What is Cystic Fibrosis? How does it affect people living with it? Cystic Fibrosis, also known as CF, is a life–threatening hereditary disease. It
is inherited by a faulty cystic fibrosis transmembrane conductor (CFTR) gene from each parent (Kowalczyk, 2014, p. 74). This faulty gene makes a
defective protein that does not work well and causes the body to produce sticky, thick mucus and very salty sweat("About CF: Causes, Signs &
Symptoms of Cystic Fibrosis," ... Show more content on Helpwriting.net ...
It is caused when an individual inherits a faulty gene, CFTR, from each parent ("What Is Cystic Fibrosis?," 2013). It is the most common lethal genetic
disease that affects white children, impacting more than 30,000 children and young adults in the United States (Kowalczyk, 2014, p. 75), (Jr., 2014).
A defect in the CFTR gene, or cystic fibrosis transmembrane regulator gene, is what causes Cystic Fibrosis. Every person inherits two of these
genes, one coming from each parent. If a child inherits a faulty CFTR gene from both parents they will have CF. If a child inherits only one faulty
CFTR gene, they are considered "CF carriers" ("What Causes Cystic Fibrosis?," 2013). More than 10 million Americans are carriers of the defective
CF gene ("Cystic Fibrosis Foundation – Testing for Cystic Fibrosis," 2014). Carriers are able to live a normal, healthy life and they usually have no
symptoms of CF, however, they could pass the faulty CFTR gene down to their children ("What Causes Cystic Fibrosis?," 2013). Carrier testing is
available to help people identify if they could pass down the gene. The test uses blood samples or scraped cells from inside the cheek to look at a
person's genetic material ("Cystic Fibrosis Foundation – Testing for Cystic Fibrosis," 2014). The figure below shows how the CFTR gene can be
inherited (Kotrla, 2014).
Every time two carrier

Essay on Cystic Fibrosis
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.
Unlike many of the diseases that plague people today Cystic Fibrosis ... Show more content on Helpwriting.net ...
This is still one of the most widely used tests because researchers still do not know exactly which gene is the defective Cystic Fibrosis gene
("Cystic," Hereditary 47). Patients are usually diagnosed by the age of two but, a few rare causes are not diagnosed until the age of eighteen
("Cystic," umm.edu 1). Since symptoms usually appear early in life patients that are not diagnosed until later in life often have more mild forms of
Cystic Fibrosis (Silverstein, Silverstein, and Silverstein 1; "Cystic," umm.edu 1). Luckily today children with Cystic Fibrosis are diagnosed early, in the
nineteen–forties children often died from Cystic Fibrosis before they were old enough to attend school ("About" 1). Even though testing for Cystic
Fibrosis is exceedingly simple the list of complications and illnesses associated with Cystic Fibrosis is extensive. Cystic Fibrosis is a disease that
affects the body in many ways throughout the patient's life. Newborns with Cystic Fibrosis may experience delayed growth, inability to gain weight,
and salty–tasting skin ("Cystic," umm.edu 1). Older patients may be infertile, have recurring pancreatitis, and respiratory problems ("Cystic," umm.edu
2). Considering that these are just symptoms involving age, the full spectrum of ailments that afflict a patient with Cystic Fibrosis is far more taxing on
a patient.
The four major areas

Cystic fibrosis, a genetic disease that limits one's ability to breathe, affects mostly the lungs but also can have a damaging effect on the intestine,
kidneys, liver, and pancreas. The name cystic fibrosis comes from the characteristic fibrosis and cysts that form within the pancreas. It is a
life–threatening illness, which afflicts around 30,000 people in the United States and about 70,000 worldwide, with approximately 1,000 new cases
being diagnosed each year and more than 75 percent of those people being diagnosed by the age of two. Nearly half of the cystic fibrosis population is
over 18 years of age, and the life expectancy is between 37 to 50 years old. The ailment, commonly referred to as CF, is a recessive disease, so both...
Show more content on Helpwriting.net ...
One such hypothesis is the heterozygote advantage. Sickle cell anemia, a similar autosomal recessive disease, illustrates this hypothesis. It has been
found to protect carriers from other diseases, and it has been speculated that people with CF are similarly resistant to certain diseases like cholera and
typhoid, which could be why the disease has prevailed for so long.
Stemming from a genetic mutation with a membrane pore, or channel that helps to facilitate the transport of bicarbonate electrolytes and chloride from
between the inside and the outside of the cell, cystic fibrosis and its inherent symptoms are caused by the loss of the pore channel, which results in
inflammation and mucus accumulation. Dehydration of the cell surface also occurs. Normally, cells have a cystic fibrosis transmembrane regulator
channel that influences fluid secretion in epithelial cells. When this channel is mutated, there is a decrease in the flow of ions and water, and this
results in dehydrated mucous that affects breathing. This in turn causes lethal bacterial infections by blocking ducts within the lungs. The most
common mutation of the cystic fibrosis conductance regulator is F508del–CFTR. This mutation creates a misprocessed protein that rapidly degrades as
it is abnormally retained in the endoplasmic reticulum compartment, therefore making it absent in the plasma membrane

Essay on Cystic Fibrosis
Cystic Fibrosis
Cystic fibrosis is the most common lethal inherited disease, affecting about 30,000 patients worldwide. In the past decade, strides in patient
management and the development of new pharmacological agents, coupled with scientific and technological advances, have increased the mean life
expectancy of CF patients to approximately 30 years of age (approximately 50% of CF patients live to the age of 30). As early as 30 years ago, the
median survival age was 8 years. Chronic lung infections, which lead to declines in lung function, remain the major cause of morbidity and mortality.
While several pathogens have been implicated, Pseudomonas aeruginosa–an opportunistic and virulent bacterium–has an affinity for the ... Show more
content on Helpwriting.net ...
Current testing readily detects up to 90% of carriers in the North European Caucasian population lining in North American and 95% of the CF carriers
in the Ashkenazi Jewish population. Approximately 50% of carriers in Hispanic and African American populations are detectable (Lory, 1999).Cystic
fibrosis is an inherited disorder that affects many functions of the body: breathing, digestion, and reproduction. The lifelong illness usually gets more
severe with age and can affect both males and female equally. The symptoms and severity of cystic fibrosis differ from person to person. Most patients
have both respiratory and digestive problems, while others only have respiratory problems. Intelligence is not affected in people with CF. People with
cystic fibrosis have secretions that are thick and sticky rather than thin and watery. In CF the glands that produce mucus, saliva, and intestinal fluids do
not work properly. Thick mucus in the lungs interferes with the removal of dust and germs and can cause breathing problems, infections, and lung
damage. The traditional first line of defense

Essay On Cystic Fibrosis
Cystic fibrosis is a disease that affects many organs in the human body. The signs and symptoms are different in each person that has this disease. The
organs that are usually affected are the sinuses, lungs, the skin, liver, and pancreas, the intestines and reproductive organs. Cystic fibrosis causes thick
mucus to accumulate in the respiratory system. It can also cause pancreatic and liver ducts to become blocked causing various problems. The protein of
the cystic fibrosis gene is called the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). The gene is located on 7q31.2 long arm of
chromosome 7 at position 31.2. The CF gene also has 27 exons and is made up of 250,000 DNA nucleotides. CFTR moves chloride ions out of cells
which is very important for salt and water balances on the epithelial cells. Cystic fibrosis can be diagnosed based on a few tests. For newborns, cystic
fibrosis can be detected by a blood test. The test shows if the newborn has faulty ... Show more content on Helpwriting.net ...
When the lungs become clogged, frequent lung infections will occur which will not allow the body to function properly. One of the main problems
with cystic fibrosis is that it causes respiratory infections. "Acute and chronic bacterial infection of the lower respiratory tract remains one of the
hallmarks of the cystic fibrosis lung disease" (Conese et al. 9). Although with proper medications and treatments, the patient will have reduced
symptoms of cystic fibrosis and will have an improved function of the body during their daily living. Another problem that cystic fibrosis patients have
is exocrine pancreatic insufficiency (Jones and Helm 6). There is a way to treat this problem. "The current treatment for exocrine pancreatic
insufficiency is porcine–derived exocrine pancreatic enzyme preparations" (Jones and Helm 6). The lungs of cystic fibrosis patients are abnormal ().
"The lung has a highly developed innate immune response to the introduction of foreign vector particles into the airways

Introduction. Cystic Fibrosis . Cystic Fibrosis (Cf) Is
Introduction
Cystic fibrosis Cystic fibrosis (CF) is a lethal autosomal recessive disorder with a clinical incidence of 1 in every 3500 newborns1. Currently, over
4000 Canadians have CF, with 60% being adults2. In the past, CF was considered a fatal disease with a life expectancy of less than two years,
however, advances in enzymatic and antibiotic therapy have greatly improved the life expectancy of patients afflicted with CF3. Currently, the median
age of Canadian CF patients is 50 years2.
CF is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CTFR) gene, which encodes a chloride ion channel that
regulates osmotic balance across the epithelium through the transport of sodium ions and water4. Mutations ... Show more content on Helpwriting.net ...
However, P. aeruginosa is the archetypal pathogen infecting the CF lungs since approximately 80% of adult CF patients are chronically infected with
this bacteria1. P. aeruginosa is a ubiquitous Gram–negative bacterium that thrives in moist environmental reservoirs such as in the soil, water and
plants8, 9. P. aeruginosa is an opportunistic human pathogen that infects immunocompromised individuals, lending to its association with
life–threatening illnesses10. In addition to pulmonary infections in CF patients, P. aeruginosa is frequently found in nosocomial infections11. As such,
P. aeruginosa is recognized for its medical importance in clinical infections. Early infection with P. aeruginosa resembles acute non
–CF infections
within the airways, however the bacterium can evolve genotypically and phenotypically during infection, and adapt to its human host1. Adaptive
mutations resulting in loss of motility and acquired antibiotic resistance support a sessile lifestyle that is associated with persistent infection within the
CF lungs9, 12. Chronic infection is characterized by immunity–mediated inflammation from increased recruitment of polymorphonuclear leukocytes to
the lungs2. Furthermore, P. aeruginosa utilizes an assortment of virulence factors such as proteases, exotoxin A, and phospholipases to destroy host
tissue, by which the symptoms of CF patients are

The Cause Of Cystic Fibrosis
Cystic fibrosis is a autosomal recessive inherited disease that affects many organ systems. Over time the outcome for patients with the disease has
improved drastically. The life expectancy for patients has increased to 37 years old, compared to 31 years old (O' Sullivan, 2009). Researchers have
reviewed the etiology, pathogenesis and clinical manifestations for cystic fibrosis. The cause of Cystic Fibrosis is mutations in a single gene on
chromosome 7 that encodes for the cystic fibrosis transmembrane regulator , CFTR. The mutated CFTR gene in Cystic Fibrosis patients causes a
defective chloride ion pathway. Typically, a functioning chloride transport allows chloride, which produces mucus, to exit the cells. Also, a chloride
transport helps ... Show more content on Helpwriting.net ...
As we can conclude, this does not accurately describe Cystic Fibrosis to its entirety. The improving medical treatment has helped increased the life
span of patients with Cystic Fibrosis but it is unfortunately non curable. How frightening it must be for people who carry the gene and then bare
children. The unknown is always terrifying especially when the outcome is generally negative. The disease does not just affect one system of the
body but many. In conclusion Cystic Fibrosis is a horrible disease and we can only hope that one day we find a

Cystic Fibrosis Introduction
Introduction
Cystic fibrosis (CF) is an inherited chronic disease that must be carried by both parents in order to for the person to suffer from it. If one of your
parents has it, then you will definitely be a carrier of the disease and it will be carried to your offspring. Children who inherit a faulty CFTR gene
from each parent will have CF.
This disease affects organs such as the liver, lungs, pancreas, and intestines.
This disease disrupts the body's salt balance leaving too little salt and water on the outside of cells which makes the thin mucus that protects the linings
of the airways, digestive system, reproductive system, and other organs and tissues free of germs become thick and sticky thus clogging the airways
and damaging the lungs. ... Show more content on Helpwriting.net ...
When someone has Cystic fibrosis this gene is broken and doesn't function normally.
Treatment:
Cystic fibrosis can not be cured, it is chronic, but treatments could be helpful to ease the symptoms. There are techniques to help you get rid of the
thick mucus, for example, the airway clearance technique, there is a common method called postural drainage and percussion. Which where you will
sit or lie in different positions to let the thick mucus flow from your small airways in your lungs to the large ones, then someone or you could tap your
chest to ease the mucus more so you could cough and get rid of it.
"Inhaled drugs like dornase alfa (Pulmozyme), albuterol, salt solution, steroids, or antibiotics thin mucus, clear the lungs and fight infections. Medicines
such as ibuprofen fight inflammation and reduce swelling in your lungs." (webmd)
Taking enzyme pills will help in digesting fats and proteins and absorb more vitamins from your food. Also taking vitamins A, D, and E can help in
replacing nutrients that your intestines can't absorb. There is also oxygen therapy which helps if you have severe lung disease and need to breathe
oxygen through a mask or prongs in your

Cystic Fibrosis Rhonda Abraham Maternal/Child Nursing March 20, 2015 Esha Osborne
Cystic Fibrosis It was suggested by Bush (2012) that most of the genetic related diseases are the hardest to cure or have no cure at all. This is due to
the fact that the DNA of the individuals cannot be altered easily by modern medicine and even the most innovative medical machines available. One
of the diseases which is considered as a genetic disorder is the Cystic Fibrosis, also called as mucoviscidosis. This is a genetically transmitted, hence
hereditary, disease which affects the internal organs of an individual primarily the lungs, pancreas, liver, kidneys, and the intestine (Buckingham, 2012).
Several decades ago, there was no available cure for ... Show more content on Helpwriting.net ...
This disease is considered as inherited disease mostly among Caucasians, where approximately 1000 new cases are recorded every year. Latinos
and American Indians are among the races most likely to acquire CF by genetic characters and less prevalent among African American. Statistics
from the health agencies had recorded that there are more than 10 million Americans who have faulty CF gene carriers without them knowing it
(Buckingham, 2012). Based on the Changing Epidemiology of Cystic Fibrosis reported by Simmons (1992) in Journal of Pediatrics, he said that
from 17,857 patients treated with cystic fibrosis Foundation demonstrated a significant shift in the age distribution of patients. The adult patient
population increased and in 1990s the median age range of patients with this disorder is 12.5 years old. Statistics revealed that among the surveyed
patients, 90% of those belong to age 12 was diagnosed with CF. Median survival age doubled in later years from age 14 to 28 years. Females are
found to have lower median survival age than males. Etiology The main cause of cystic fibrosis is hereditary where a carrier parents may transmit the
faulty CFTR to her offspring, whereas if such gene is transferred to the child, the latter has the chance of 25 percent of developing CF. Experts claimed
that if the child acquired the faulty CFTR gene from only one parent, say

Like the world around us the medical field is always changing. It is always pushing forward, trying to understand mysteries of the human body that
have boggled researchers for decades. What confuses scientists more, are the organisms or conditions that create these abnormalities that can send the
human body into a downward spiral. Disease is something that has affected human civilization since the dawn of time. It can either be chronic or
acute, but in either case it has the potential to bring havoc to the human body systems that can lead to devastating consequences. Generally there are
two main types of diseases, ones caused by invading pathogens and those which are hereditary. One hereditary disease that can be particularly tragic is
... Show more content on Helpwriting.net ...
These thick, secretions can also be found in the lungs, creating breathing complications and a breeding ground for bacteria.
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).
"About 1 in 4,000 children in the United States are born with CF" (Crosta, 2009) and "one in every 3,600 children born in Canada [have] cystic
fibrosis" ("Cystic fibrosis Canada," 2011). According to several resources a consensus has formed which proposes that people with northern
European ancestry, specifically those that are white, are more likely to be carriers of the disease and thus more at risk of having children with the
mutated gene. This risk is even more likely if the other parent of the child is a carrier. Another risk factor for CF is "family history, since the disease
is hereditary it increases they likely hood of

A Report On Cystic Fibrosis
Cystic Fibrosis
Cystic fibrosis is described as a "congenital disorder affecting exocrine gland function, with respiratory effects, including excessive secretions,
obstruction of the bronchial system, infection, and tissue damage" (Kowalczyk, 2014). Cystic fibrosis is also known as CF, and is the most common
lethal disease in white children (Kowalczyk, 2014).
People whom have CF have "histologically" normal lungs at birth. Lung damage occurs when secretions from the enlarged bronchial glands gradually
increase; this leads to the obstruction of the bronchial system (Kowalczyk, 2014). Mucus clogs the airways and this "plugging" promotes infection
such as staph which causes more tissue damage; it also causes atelectasis and emphysema. Once this destructive cycle starts, it is very difficult to stop
and ultimately results in respiratory failure (Cystic Fibrosis Foundation). Doctors will follow the diseases progression by chest x–ray; it will show the
"gradual worsening of structural abnormalities" (Kowalczyk, 2014). CF does not just affect the respiratory system, but also affects the exocrine
system. Parts of the exocrine system affected are salivary glands, the small bowel, pancreas, biliary tract, a female's cervix, and the male genital
system (Kowalczyk, 2014). The mucus in the pancreas stops the release of digestive enzymes; these digestive enzymes are imperative for the body to
break down food and absorb nutrients (Cystic Fibrosis Foundation). Mucus can also cause liver

Cystic Fibrosis
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. ... Show more
content on Helpwriting.net ...
CF is found in nearly one of every three–thousand live births. But more than eighty percent of the patients are diagnosed by age three. Today, nearly
forty percent of the diagnosed inhabitants are at the age of eight–teen or older.
Today, there is no cure for Cystic Fibrosis, but if the disease is found in an individual early enough, the patient can be recovered. About 85 to 90% of
patients will have problems absorbing nutrients from their intestines. And because enzymes are lost when diagnosed, enzyme supplements are required
to prevent bad nutrition and malnutrition. There are two main body parts that can be cared for the treatment of Cystic Fibrosis: The lungs and the
chest. Lung problems can also be treated, but not cured. Antibiotics and other drugs may loosen the thick mucus in the lungs, but if it fails, a
transplant lung may help to extend life. But about four hundred people die each year while waiting for a lung transplant. Also Chest physical therapy
is a technique done by vigorous claps on the back and chest to loosen the thick mucus from the lungs. The average lifespan of an individual with CF is
about thirty years.
In the U.S alone there are about thirty thousand, who are carriers of the disease, and about 2,500 babies are born with it each year. About five percent
of the Americans are unaffected carriers who may discover symptoms later in their lifetime. CF occurs mainly in

Cystic Fibrosis
Can viruses used as vectors in the process of gene therapy be an effective treatment for Cystic Fibrosis? Firstly, Cystic Fibrosis is a genetic and
recessive disease that mostly affects the lungs and pancreas. This leads to phlegm accumulation, salty sweat, male infertility, shortness of breath
and increased risk of infection, which all contribute to premature death (CFF, 2017). Since it is recessive, you need two copies of the gene to
manifest the disease, but 1/30 Americans have at least one copy of the gene, so it is easily passed on (Hulslander 2017). To treat this disease, some
scientists believe a viral vector can be used in gene therapy while others say using a virus is too risky and suggest a non–viral approach, such as
liposomes... Show more content on Helpwriting.net ...
Gene therapy is one of the newest, yet controversial solutions to treating many diseases, including Cystic Fibrosis. Gene therapy is the insertion of a
normal gene into deficient cells using an appropriate vector (Hart, et al. 2006). However, it does have potential risks, leading to the argument of if
they should be used or not, and if used, is a viral or non–viral approach better. It becomes complicated since many symptoms of these diseases begin in
early childhood, and deciding whether or not to subject a child to these possible dangers is a hard choice, but do the benefits outweigh the risks? As
stated above, Cystic Fibrosis can lead to early death, around 37 years old (Hulslander 2017), so if death is the impending result, shouldn't every
possible measure be examined, if not explored?
One side to this issue is the use of viral vectors in gene therapy to cure the underlying disease. One of the first viral vectors used was the adenovirus
vector. The adenovirus by itself is a linear double–stranded DNA molecule that causes mild respiratory infections, but when used as a vector, certain
genes and regions are removed to make it less harmful (Alton, et al. 2010). The adenovirus vector is easy to grow, adaptable, able to infect both
dividing and non–dividing cells and is quick to

A Research Study On Cystic Fibrosis
Brief History
Cystic Fibrosis was first recognized in 1938, as an individual disease or distinct entity, which basically means that the symptoms were not related to
any other illness (Davis, 2006), but there was a common passage in the 'Almanac of Children's Songs and Games from Switzerland', the passage read,
'the child will soon die who's brow tastes salty when kissed', which hinted at the saltiness of the skin of infants who died might relate to Cystic Fibrosis.
Autopsies were done in 1838 on malnourished infants, these infants acclaimed a diseases of mucus that plugged the glandular ducts, this was termed
as "cystic fibrosis of the pancreas" by D.H. Anderson (Davis, 2006). Cystic Fibrosis was described by the following symptoms, malabsorption of fats
and proteins, growth failure, steatorrhea, and pulmonary infection (Davis, 2006). Numerous articles began to appear during the early 1900s, these
articles were describing newborns who had pancreatic disorders (Shapiro & Heussner, p.17).
Around 1944, scientists discovered that the widespread defect of mucous secretions could have a big explanation for the many symptoms of cystic
fibrosis (Shapiro & Heussner, p.17). There was are pattern of recessive inheritance patter that was proposed in 1946 (Todd 2001), by the 1950s many
advancements have been made, such as diagnosis and even the development of the sweat test and successful treatments for lung infections by using
antibiotics (Shapiro & Heussner, p.17). In the year 1985,

The Treatment Of Cystic Fibrosis

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The Treatment Of Cystic Fibrosis