Send the link below via email or IMCopy
Present to your audienceStart remote presentation
- Invited audience members will follow you as you navigate and present
- People invited to a presentation do not need a Prezi account
- This link expires 10 minutes after you close the presentation
- A maximum of 30 users can follow your presentation
- Learn more about this feature in our knowledge base article
Transcript of Cystic Fibrosis
FIBROSIS Carina, Jesus, Patience, Kim What is Cystic Fibrosis? -Cystic fibrosis is a genetic disorder that often affects multiple organ systems of the body.
-Cystic fibrosis is characterized by abnormalities affecting certain glands (exocrine) of the body, especially those that produce mucus.
-Exocrine glands secrete substances through ducts, either internally (e.g., glands in the lung) or externally (e.g., sweat glands). In cystic fibrosis, these secretions become abnormally thick and can clog up vital areas of the body causing inflammation, obstruction, and infection Causes -Cystic fibrosis is caused by a deletion mutation to the cystic fibrosis transmembrane conductance regulator (CFTR) gene located on the locus of chromosome 7. It is inherited as an autosomal recessive trait.
-Cystic fibrosis is slowly progressive and often causes chronic lung damage. Diagnosis Evolution Treatment/Medication Complications/Challenges Respiratory System -Bronchiectasis: damages airways, constricting air movement
-Chronic Infections: thick mucus allows for buildup of bacteria and fungi, causing infections such as bronchitis and pneumonia
-Nasal Polyps: the inside of the nose becomes irritated causing polyps, that makes it difficult to breath when sleeping
-Coughing Blood: lining of the airways becomes thin, causing blood to come out when coughing
-Pneumothorax: space that separates the lungs from the chest wall is filled with air, which produces chest pain and breathlessness
-Collapsed Lung: after many lung infections, the lungs can collapse
-Respiratory Failure: lung tissue can become so damaged, until one day it fails Digestive System -Intussusception: intestine folds in on itself causing bowel obstruction
-Rectal Prolapse: caused by frequent coughing and straining during constipation
-Blocked Bile Duct: tube that transports bile from the liver and gallbladder to the small intestine can become damaged leading to liver problems or even gallstones
-Diabetes: by the age of 30, about 20 percent people with Cystic Fibrosis will develop diabetes
-Nutritional Deficiencies: the thick mucus can block tubes from the pancreas leading to the intestines, preventing necessary digestive enzymes from passing Reproductive System Infertility in men with cystic fibrosis is common, but there is a possibility for cure with treatment or surgery. In women, infertility is less common, however, pregnancy can worsen symptoms of cystic fibrosis. Other Complications -Osteoporosis: the thinning of bones
-Electrolyte Imbalance: the imbalance of minerals in the blood Team Involved Prognosis -Cystic Fibrosis is ultimately fatal, there is no cure, and there is a low survival age.
-Earlier screening and diagnosis has significantly increased the survival age.
-The average survival age in 1959 was 6 months, now it is about 37 years.
-It is very difficult to manage and live with: everyday tasks become extremely difficult.
-The emotional stress of the disease puts strains on relationships and family.
-Certain things that increase quality of life include: prenatal diagnosis, antibiotics, physical therapy, nutrition, exercise, and lung transplants. Research/ Future Treatments Gene Therapy -In theory, transferring the normal CFTR gene into the affected epithelium cells would result in the production of functional CFTR in all target cells.
-To be successful only 5-10% of affected CFTR cell would need to be replaced.
-Multiple types of gene therapy have been used with the cystic fibrosis gene but none have proved successful. Or if they were successful cDNA recombination renders the new gene useless when they divide.
-Research, funded by the Cystic Fibrosis Trust, continues to make advances in gene therapy. Small Molecules -Drugs that make the ribosome overcome the premature stop codon which mutates the CFTR gene are under development. Target nonsense mutations.
-10% of Cystic Fibrosis cases are caused by this.
-Aminoglycoside antibiotics interfere with DNA synthesis and error-correction. In some cases, they can cause the cell to overcome the stop codon, insert a random amino acid, and express a full-length protein.
-These drugs and others are in various stages of production ranging from development to clinical trials. aim at compensating for mutations in CFTR gene potential cure, replaces affected CFTR with normal genes Sources -Cycle of Cystic Fibrosis Progression and Stages - Pulmozyme® (dornase alfa). (n.d.). Pulmozyme® (dornase alfa) Cystic Fibrosis Treatment Information. Retrieved February 26, 2013, from http://www.pulmozyme.com/understanding/cf-progression.html
-Cystic Fibrosis Foundation - RESEARCH OVERVIEW. (n.d.). Cystic Fibrosis Foundation - Home. Retrieved February 27, 2013, from http://www.cff.org/research/
-Cystic Fibrosis Staff :: Nationwide Children's Hospital . (n.d.). Nationwide Children's Hospital :: Leading Pediatric Hospital in Neonatal Medicine, Neurosciences, Gastroenterology, Heart Care, and much more. Retrieved February 26, 2013, from http://www.nationwidechildrens.org/cystic-fibrosis-staff
-Cystic Fibrosis-What Happens. (2011, June 15). WebMD Children's Health Center - Kids health and safety information for a healthy child. Retrieved February 26, 2013, from http://children.webmd.com/tc/cystic-fibrosis-what-happens
-Staff, M. C. (2012, June 13). Cystic fibrosis - MayoClinic.com. Mayo Clinic. Retrieved February 26, 2013, from http://www.mayoclinic.com/health/cystic-fibrosis/DS00287 -Cystic fibrosis (CF) may be suspected in a child who shows poor growth, has repeated respiratory or sinus infections, or both.
-The standard diagnostic test for cystic fibrosis is the quantitative sweat chloride test, or "sweat test," which measures the amount of salt in the sweat.
-The sweat test can be difficult to administer to newborns because they do not have active sweat glands. For newborns, an immunoreactive trypsinogen test (IRT) may be used instead. This test involves drawing blood and analyzing it for a specific protein called trypsinogen. A positive IRT may be confirmed at a later date with a sweat test
Other tools that help with diagnosis include chest X-rays, which may reveal characteristic respiratory complications, and lung function tests, which may indicate abnormal airway function. Symptoms Symptoms in a baby or young child:
-A blocked small intestine at birth
-Salty sweat or skin
-Wanting to eat more or less, having little energy, or losing weight
-Unusual bowel movements
-A cough that does not go away or wheezing
Over time, symptoms may get worse and result in:
-Coughing up mucus that sometimes has blood in it.
-Difficulty exercising or not being able to exercise.
-Clubbing (rounding and flattening) of the fingers.
-Growths in the nose or sinuses -Dietitian: help the patient keep a balanced diet to prevent complications
-Genetic Counselor: perform newborn screenings and advice families
-Nurses: help patients in many areas and aid other health care professionals
-Psychologist: treat patients to improve their physical/psychological functions
-Respiratory Therapist: provide pulmonary rehabilitation
-Pharmacists: give patients all the medication they need
-Surgeons: perform heart and lung transplants
-Cardiopulmonary rehabilitation Specialist: focus on the healing of patients through several programs (like nutrition and stress management)
Pediatric specialists: provide the early treatment that is necessary -Obstruction: Thick, sticky mucus blocks the airways. With this obstruction in the lungs it makes it difficult for the lungs to get rid of a bacterium that is inside of it.
Respiratory tract infection: With the thick mucus inside of the respiratory system in leads to bacteria growth due to the welcoming environment that the mucus creates for maladies to grow inside of.
-Inflammation: is the body’s natural reaction but due to the inflammation it becomes increasingly difficult for the individual to breathe, bringing pain and discomfort
After all this occurs it leads to lung damage, but then the whole process begins again. This time with greater damage being done to the lungs scarring begins to occur. Then poor lung function, which ultimately leads to respiratory failure unless it is being treated on a regular bases. While there is no cure there are treatment that will help remedy some if not most of the effects.
-Respiratory therapy, any treatment that may slow down the lung damage while simultaneously improving breathing. The purpose is to reduce infection and getting rid of mucus.
-Bronchodilators, make breathing easier also assists in releasing mucus.
-DNase/Pulmozyme, their purpose is to thin the mucus, thus reducing the obstruction in the lungs.
-Breathing exercises, to assist the child in strengthening the muscles used for breathing.
-Postural drainage, the child is put in different positions to allow gravity to drain the mucus by coughing in that position.
-The therapy is to replace digestive enzymes, making sure that the body absorbs all the vitamins and minerals to prevent intestinal blockage
-Basic medication to help kill bacteria that cause infections inside of the lung.