Cystic Fibrosis. Presented by: Chris Belanger & Dylan Medd
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1 Cystic Fibrosis Presented by: Chris Belanger & Dylan Medd
2 Outline What is Cystic Fibrosis? Signs, Symptoms & Diagnosis Who does it effect? General effects on daily life Managing Cystic Fibrosis Exercise information Case study
3 What is Cystic Fibrosis? Cystic fibrosis (CF) is the most common fatal genetic disease affecting Canadian children and young adults. It is an autosomal recessive genetic disorder that develops due to a mutation in the CFTR (Cystic fibrosis transmembrane conductance regulator) gene. This disease is recessive in nature because both copies of the CFTR gene must be missing in order for Cystic Fibrosis to develop. Therefor both parents must be carriers in order to pass on the disease.
4 The CFTR protein is required to regulate components of sweat, digestive fluids and mucous. Cystic fibrosis mainly effects the lungs and pancreas but also has effects on the liver and intestines. CF causes the production of thick mucous that blocks the pancreatic duct, intestinal function and bronchi function (due to poor functioning of Na+ and Cl- channels).
5 The thicker mucus has trouble moving out of the lungs, so bacteria can remain and cause infections.
6 General Signs & Symptoms Difficulty breathing Sinus infection Poor growth Infertility Salty tasting skin Along with effects to many other parts of the body where the mucous has accumulated
7 Severe Signs & Symptoms Coughing up blood High blood pressure Hypoxia (difficulties utilizing oxygen) Respiratory failure (may require ventilators or breathing masks) Heart failure
8 Diagnosis CF can be diagnosed through many different methods including: - newborn screening - sweat testing - genetic testing Once Diagnosed with CF several tests must be completed regularly such as: - imaging tests (x-rays) - lung function tests - organ function tests
9 Who does CF effect? 1 in every 3600 children born in Canada has Cystic Fibrosis. 1 in 25 Canadians carries a defective version of the CFTR gene. CF occurs equally between men and women Girls have a 60% greater death rate under the age of 20 due to CF complications.
10 Effects on daily life People with CF must undergo daily therapy routines and periodic trips to therapy clinics. Most individuals with CF lead normal lives for many years in the areas of everything from education, physical activity and social relationships. This disease unfortunately increases in severity with age and slowly puts restrictions on daily life activities.
11 Managing Cystic Fibrosis While there are no cures for CF there are several treatments to delay the progression of the disease. Management has improved greatly over the last 70 years. If someone with CF is proactive with the management and monitoring of the disease they can live a normal lifestyle for a longer period of time
12 Daily treatments can include: Airway clearance. ex. active breathing techniques, postural drainage and device use. Physiotherapy (chest compressions) Exercise
13 Medical treatments include: - Bronchodilators are inhaled to relax the muscles that surround the airways in the lungs. - Antibiotics to fight off possible infections. - Insulin is taken to regulate and manage blood glucose levels (CF - related to diabetes). - Bisphosphonates are taken to treat osteoporosis which can result from CF. - In the most severe cases Lung, Pancreas and Liver transplants may be necessary. *Use depends on severity and subsequent issues.
14 Exercise Information Exercise is strongly recommended for everyone with Cystic Fibrosis. Infants and Toddlers with CF should have some exercise included in normal daily routine to increase exercise adherence for the future. Children and adults are also encouraged to include aerobic activity, resistance training and stretching into daily fitness routines.
15 Contradictions Due to breathing difficulties some children with CF may not have as much stamina and may tire easily during exercise. Children with CF are at a higher risk of dehydration during exercise and may need to eat salty snacks and/or drink extra fluids. Shortness of breath, dizziness, coughing, irregular heart beat are other signs to stop exercise.
16 Extra Tips If there are any concerns or worries during exercise, individuals should consult their physiotherapist or physician. Before starting an exercise program, a person with CF should have an exercise test ordered by your doctor. This test will show if your heart and lungs are strong enough to handle exercise.
17 Benefits of Exercise Cardiovascular Fitness - provides the most benefit if the body can tolerate it - increases lung capacity - increases overall energy - improved airway clearance, which helps prevent respiratory infections Resistance Training - increased muscular strength and endurance - increases bone density and prevents bone degradation
18 In Conclusion Each case of Cystic fibrosis is specific to the individual. All types and variations of exercise can be performed by someone with CF as long as their body is physiologically capable of supporting the required intensity and duration. Being proactive with regular exercise from a young age is the most important factor for preventing progression of the disease
19 Questions 1. What missing gene results in a case of Cystic Fibrosis? 2. Why are infections so common in someone with CF? 3. Name one benefit of cardiovascular fitness and one of resistance training for this specific population. 4. What is the major exercise limitation for an individual with CF?
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