Cystic fibrosis is a genetic condition that causes thick, sticky mucus to build up in the lungs and digestive tract. This mucus clogs the lungs and leads to infections, and blocks the pancreas which causes issues absorbing nutrients. The main symptoms are issues with the lungs like infections, coughing, and shortness of breath as well as problems with digestion like poor growth and weight gain. There is no cure, but treatments focus on clearing the lungs of mucus, treating infections with antibiotics, using enzymes to aid digestion, and potentially lung or liver transplants in severe cases.
Primary ciliary dyskinesia (pcd) is an autosomal recessive genetic condition in which the microscopic cells in the respiratory system called cilia do not function normally.
Primary ciliary dyskinesia (pcd) is an autosomal recessive genetic condition in which the microscopic cells in the respiratory system called cilia do not function normally.
A short presentation in Genetics about Cystic Fibrosis. This presentation includes the CF pathogenesis, diagnosis, signs and symptoms, the life expectancy of a patient, and its management.
Hello Everyone
Our presentation discuss about the disease, treatment, diagnosis and medications and how this disease is caused by, pattern of inheritance, Similar images will tell about what mainly the disease is.
Cystic FibrosisCreated By Tammy Wagner, Karen Byfield, Sherry.docxalanrgibson41217
Cystic Fibrosis
Created By: Tammy Wagner, Karen Byfield, Sherry Santineau, Jack Lavoie, Shawna Maggard
Objectives:
To define Cystic Fibrosis
To explain and discuss history and causes of Cystic Fibrosis
To describe impact of Cystic Fibrosis in healthcare and nursing.
Identify and recognize that living with a chronic disease like cystic fibrosis is possible through maintaining a balanced lifestyle.
Identify expected outcomes in patients with Cystic Fibrosis
Collect and explain health screenings, health interventions, health promotion and education in patients with Cystic Fibrosis
Identify national and community resources for patients with Cystic Fibrosis
Describe effects of CF on prenatal care and child bearing
Identify occupational consideration and job hazards related to CF
Identify and describe susceptibility to substance abuse and ability to cope with stress
Description:
Cystic Fibrosis is a genetic disease of the secretory glands that affects the lungs, pancreas, liver, intestines, sinuses, and sex organs.
Definition:
Cystic Fibrosis is characterized by an abnormally thick and sticky production of mucus in the body.
Mucus is normal in the body, it lubricates and protects passages such as the respiratory airways and digestive tract (Genetics Home Reference. 2017). Cystic Fibrosis is a mutation in the the Cystic Fibrosis Transmembrane Regulator (CFTR) gene that causes the over production of thick, sticky mucus that can block these passages and create breeding grounds for infection (National Human Genome Research Institute 2013). This infection can lead to scaring, permanent lung damage and even death. This mucus in the digestive tract can prevent the absorption of nutrients leading to weight loss, malnutrition, failure to thrive, as well as numerous long term problems caused from poor nutrition even though the person may be eating a solid health diet (Genetics Home Reference. 2017). The affects this mucus has on the pancreas can alter insulin production leading to diabetes. Reproductive health is also affected from the mucus produced from cystic fibrosis often leading to infertility (Genetics Home Reference. 2017).
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History
1938- American Pathologist Dr. Dorothy Andersen named the disease cystic fibrosis of the pancreas
Early 1900’s- Physicians name the disease mucoviscidosis
1595- Texts reference the link between children with salty skin and early death rates
1948- Dr. Paul di Sant’Agnese noted the correlation of increased salt in sweat of CF patients
1989- The gene (CFTR) was identified and its genetic code was sequenced
1938, American Pathologist Dr. Dorothy Andersen described a disorder in medical literature based on autopsy findings of children that died from malnutrition; She named the disease cystic fibrosis of the pancreas (Nick 2012). The disease has also been called mucoviscidosis by other physician during the same time period because of the thick mucus present (Nick 2012). Children in the middle ages we.
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2. What Is Cystic Fibrosis?
Cystic fibrosis (CF) is an inherited (genetic)condition found in children that affects
the way salt and water move in and out of cells.This,in turn,affects glands that
produce mucus, tears, sweat, saliva and digestive juices.Normally,the secretions
produced by these glands are thin and slippery, and help protect the body's
tissues. In people with cystic fibrosis, the secretionsare abnormally thick and
sticky,so that they don't move as easily. Instead of acting as lubricants,these
thicker secretions may clog tubes, ducts and passageways throughoutthe body.
Cystic fibrosis also causes increasedsalt in sweat on the skin.
3.
4. Cause of Cystic
Fibrosis
Cystic fibrosis occurs as a result of a mutation in a specific
gene called the cystic fibrosis transmembrane
conductance regulator (CFTR) gene. Researchers have
identified more than 1,000 different mutations that can
cause CF, some of which lead to more severe symptoms
than others.
If a child is born with CF, it means that both of their parents
carry at least one copy of the CF gene. When two carriers
— who have just one copy of the gene — have a child, the
child has a 25% chance of developing CF.
Those who inherit the CF gene from only one parent will not
get the condition. However,they will be a carrier of the
gene.
The most significant risk factor for CF is having a family
history of the condition. People who are white and of
Northern European ancestry are also at increased risk.
5. Cystic Fibrosis's Impact on the Body
The organs most often affected by cystic fibrosis are the lungs and the pancreas, which can lead
to breathing and digestive problems.In a person with cystic fibrosis,mucus is still able to trap
bacteria, but it has trouble moving out of the lungs. As a result, bacteria remain in the lungs,
and can cause serious infections.
The pancreas is an organ that produces proteins called enzymes, which help the digestion
process.In a person with cystic fibrosis,the thick, sticky mucus blocks ducts (or paths)
between the pancreas and the intestines. It prevents enzymes that digest fats and proteins
from reaching the intestines. As a result, people with cystic fibrosis have trouble digesting
food and getting the vitamins and nutrients they need from it. Because the pancreas controls
the level of sugar in the blood,a small percentage of people with cystic fibrosis may also
develop type-one diabetes (formerly called juvenile or insulin-dependent diabetes).
6. In some people with cystic fibrosis,the intestines,liver, sweat
glands, and reproductive organs are also harmed.
The tube connecting the testes and prostate gland can
become blocked,leaving many men with cystic fibrosis
infertile. However, certain fertility methods and surgical
procedures can sometimes make it possible for these men
to become fathers. Although women with cystic fibrosis
may be less fertile than other women are, many of them are
able to conceive and have successful pregnancies.
Bile ducts, which carry bile from the liver and gallbladder to
the small intestine, may also become blocked and
inflamed.This could cause liver problems,like cirrhosis and
portal hypertension. Only a small percentage of people
with cystic fibrosis develop these types of problems,
however.
7. The classification for cystic fibrosis is subdivided
into four parts:
➢CF with pulmonary manifestations.
➢CF with intestinal manifestations.
➢ CF with other manifestations.
➢CF unspecified
Infants born with cystic fibrosis typically show
signs within the first year. Cystic fibrosis can
affect different organs and systems in a
number of ways.
8. Respiratory symptoms of cystic fibrosis
• Frequent lung and sinus infections
• Chronic cough and coughing up blood
• Wheezing
• Clubbing (rounding and enlargement of the fingers and toes)
• Heart enlargement
• Nasal polyps (fleshy growths in the nose)
• Sinusitis (inflamed nasal sinuses)
• Exercise intolerance
About 10 to 20 percent of children with cystic fibrosis have nasal polyps — small protrusions of
tissue from the lining of the nose — that need to be surgically removed. Children with cystic fibrosis
also have a high rate of sinus infections.
9. Digestive symptoms of cystic fibrosis
The pancreassecretesdigestive enzymes that break down
food and provide nourishment for the rest of the body.
In around 90 percent of children with cystic fibrosis,the
ducts leading from the pancreasto other organs
become blocked.Thiscauses difficulty absorbing key
nutrients,includingfats,someproteins,and fat-
solublevitamins such as A,D, E and K.
10. Cystic fibrosis-related diabetes
symptoms
Cystic fibrosis-related diabetes (CFRD) often goes undetected in children with cystic fibrosis.The
symptoms of CFRD include:
• Frequent need to pee
• Increased thirst
• Losing weight for no apparent reason
• Exhaustion
• Loss of lung function
The American Diabetes Association and the Cystic Fibrosis Foundationrecommend children
with cystic fibrosis be tested for diabetes with an oral glucose tolerance test every year once
they turn 10.
11. Cystic
fibrosis-
related liver
disease
symptoms
As more people with cystic fibrosislive longer,more are developing cystic
fibrosisliver disease (CFLD).With CFLD, the liver becomesscarred over
time from impaired bile flow.In the most severe cases, such scarring can
lead to cirrhosis,however,this is rare.About 30 percent of patientswith
cystic fibrosisdevelop liver disease, while only two to eight percent
develop cirrhosis.
People with CFLD may not have symptomsuntil pubertyor later.These may
include:
• abnormal liver blood tests
• abnormal appearance of liver on radiologytests
• enlarged liver
• swollen abdomen
• yellowish skin
• vomiting of blood
12. The mucusproduced in CF:
• Blocks the pancreas and prevents the
normal break down and use of food by
the body, as well as inhibit the body’s
ability to produce insulin
• Affect bowel function,leading to
constipation or foul smelling and
greasy stools, due to the increased
mucusin the intestines
13. Cystic
Fibrosis Diagnosis
Most people are diagnosed with CF at birth with
newborn screening, or before 2 years of age. A doctor
who sees the symptoms of CF will order a sweat test or a
genetic test to confirm the diagnosis.
A sweat test is the most common test used to diagnose
CF. It is a painless test. A small electrode (disk) is placed
on the skin (usually on the arm) to get the sweat glands to
make sweat. The sweat is collected and the amount of
chloride (a part of salt) is measured. A high level of
chloride means that the person has cystic fibrosis.
14. Cystic Fibrosis
Treatment
Right now, there is no treatment that can cure cystic fibrosis.
However, many treatments exist for the symptoms and
complications of this disease. The main goals of treatment
for someone with cystic fibrosis are to prevent and treat
infections, keep the airways and lungs as clear as possible,
and maintain adequate calories and nutrition.
To accomplish these objectives, treatments for cystic fibrosis in
children may include:
• Childhood immunizations. Cystic fibrosis doesn't affect the
immune system itself, but children with cystic fibrosis are
more likely to develop complications when they become
sick. Doctors are especially concerned with making sure
cystic fibrosis children receive their pneumococcal and
influenza vaccines.
15. • Antibiotics. Newer antibiotics may more
effectively fight the bacteria that cause lung
infections in people with cystic fibrosis. Oral
and intravenous antibiotics have made
antibiotic therapy available on an
outpatient basis. Aerosolized antibiotics
that can be inhaled, such as tobramycin
(Tobi), allow medication to reach directly
into a person's airways. The drawbacks to
long-term antibiotic therapy include the
development of bacteria that are resistant
to antibiotics.
16. • Enzymes. For digestive problems, people with cystic
fibrosis can take enzymes by mouth with meals in
order to help digest his food and get the nutrients
they need. The doctor may also prescribe vitamin
supplements and a high-calorie diet.
• Insulin shots.These are only needed if pancreas
stops producing insulin of its own.
• Oxygen therapy. This treatment may be required as
the disease progresses.
• Lung and/or liver transplants. In some cases, lung
transplants have extended the lives of people with
cystic fibrosis. Although it is rarer for a person with
cystic fibrosis to need a liver transplant, the
procedure can also be beneficial.