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Transcript of CYSTIC FIBROSIS
In the US every state routinley screens for CF. The blood test will check for for the immunoreactive trypsinogen (IRT) released by the pancreas. In CF babies these levels will be higher than normal. After a positive blood test the newborn will need two more tests before diagnosis:
Sweat test- sweat producing chemical is applied to small area of the skin and the sweat is collected to analyze salt levels.
Genetic test- DNA sample from blood or saliva will be checked.
Prenatal genetic tests:
Amniocentesis- your doctor inserts a hollow needle through your abdominal wall into your uterus, then he or she removes a small amount of amniotic fluid from the sac around the baby.
Chronic Villus Sampling (CVS)- doctors remove a tissue sample from the placenta.
The medical intervention for cystic fibrosis are primarily to reduce complications and enhance the quality of life for the patient. There is no cure for this genetic disease. For this reason treatment of CF problems is crucial.
What is Cystic Fibrosis?
Cystic Fibrosis is an inherited chronic respiratory disease that produces an excess of mucus build up in the lungs, It affects organs such as lungs, pancreas, liver, intestines, sinuses, and sex organs.
Cystic Fibrosis affects more than 70,000 children and adults worldwide.
In the United States today, about 1 of every 3,600 Caucasian children is born with CF.
Signs and Symptoms
Very salty-tasting skin
Persisting coughing (phlegm production)
Frequent lung infections, pneumonia, bronchitis
Shortness of breath
Poor weight gain in spite of a good appetite
Frequent greasy / bulky stools
Untreated Cystic Fibrosis
What causes CF?
Cystic Fibrosis is an inherited disease.
For a child to inherit CF, both parents must be carriers of a defective gene on chromosome 7.
They then have a 50 % chance of becoming a carrier.
A 25 % chance of of getting CF,
A 25 % chance of not being a carrier and not having CF.
What is it about chromosome 7 that causes CF?
A chromosome carries genetic information.
Chromosome 7 carries the cystic fibrosis transmembrane conductance regulator (CFTR).
CFTR controls salt and water movements in and out of the cell.
When CFTR is defective, cystic fibrosis occurs because the CFTR doesn't work or is completely missing.
When salt and water don't move in and out of the cells properly, sweet becomes 5 times saltier and a thick, sticky mucus is produced outside the cell.
What does the thick, sticky mucus do?
It affects the.....
Mucus builds up and obstruct the airway
Build up also makes a suitable environment for bacteria growth
Bacterial growth increases risk of infection
Repeated infections cause lung damage
pancreas produces enzymes that help with digestion
Build up of mucus blocks ducts in pancreas, stopping enzymes from reaching intestines
Without enzymes, intestines can't digest food properly
Leads to loss of vitamins and nutrients
Fifteen years ago, most children with CF would die before reaching their teens. Now, with new treatments available, more than half live into their thirties, and new research is leading to the possibility of a cure. Statistics now show that nearly 40% of the people living with CF in the United States are 18 years or older.
Translucent (dark) lung fields
Depressed or flattened diaphragms
Right ventricular enlargement
Areas of atelectasis and fibrosis
Imaging CXR, CT, MRI
Pulmonary function test
The NPD test is done by placing an electrode on the lining of the nose.
The lining is then covered in a series of liquids that contain different salts.
These liquids are always given in the same order during a test.
Nasal Electrical Potential Difference test
Dornase alfa (Pulmozyme) has been shown to reduce pulmonary exacerbations and improve lung function in CF patients’ and is currently the mucolytic agent of choice with proven efficacy in CF patients’.
Newer agents targeting other components of CF mucus, such as filamentous actin, are currently in development.
Chest physical therapy (CPT) which helps by loosening the thick mucus in the lungs making it easier to cough up secretions.
Perform chest physiotherapy
Some bronchodilators ordered include:
Some antibiotics that may be used include:
Lung transplants for people with cystic fibrosis are controversial because studies indicate the procedure is associated with many complications, and may not prolong life or enhance quality of life.
Davis, Jane C et al. “Monitoring Respiratory Disease Severity in Cystic Fibrosis.” Respiratory Care Journal. May 2009: 606-613. Print.
Des Jardins, Terry, Burton, G., Geroge. (2006). Clinical manifestations and assessment of respiratory disease, fifth edition. Chicago: Univeristy of Chicago press.
Flores,Josani Silva et al. “Adherence to Airway Clearance Therapies
by Adult Cystic Fibrosis Patients.” Respiratory Care Journal. Feb.2013:279-281. Print.
Glausiusz, Josie.“Hidden Benefits of Cystic Fibrosis”. Discover Magazine. March 1995. Web. 16 Oct.2013.
Walsh, K., Brian, Czervinske, P., Michael, Diblasi, M., Robert. (2010). Perinatal and pediatric respiratory care, third edition, St. Louis, Mosby.
Wilkins, L. Robert, Stoller, K. James, Kacmarek, M. Robert. (2009). Fundamentals of respiratory care, ninth edition, St. Louis: Mosby.
These tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood,.
Some branded medications ordered include
In conclusion, cystic fibrosis is a hereditary recessive genetic illness, which results in a build-up of mucus in the airways and other organ systems, resulting in a wide variety of symptoms including diabetes mellitus, lung infection, infertility, mal-absorption and malnutrition. Currently, the available treatments for cystic fibrosis tackle the symptoms and not the root cause. Although these treatments have proved to be successful and have greatly helped those suffering from cystic fibrosis, they are not life sustaining and have not eradicated the illness. In our opinion, further research should be done, which is geared towards a potential cure for cystic fibrosis.