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Cystic Fibrosis is a multisystem disorder that is inherited. It mostly occurs in Caucasian decent. Cystic Fibrosis (CF) affects many different parts of the human body including: digestive system, lungs, sweat glands and reproductive organs. CF generally decreases life expectancy for patients diagnosed. In the last half century or so life expectancy has increase dramatically. This is due to the improved antibiotic therapies, daily physiotherapy and exercise treatments, nutritional support, mucus thinning treatments, anti-inflammatory agents and the ability for lung or organ transplants.

Cystic Fibrosis is caused by a mutation of one gene that produces a protein called CF Transmembrane conductance regulator (CFTR). This is a channel in the membrane of epithelial cells, found in organs that contain fluid and mucus producing tissues. CFTR in CF patients does not allow the transport of chloride. This causes a salty sweat because the chloride in the fluid that is normally passed by the sweat glands remains in lung cells rather than being transferred out. Inside of the lungs of a patient with CF, chloride remains in the cells instead of being transported out. Water follows chloride which results in fluid remaining in the lungs. Abnormally high levels of sodium chloride in the mucus of the lungs also results in a possible increase of the risk of infections to the patient. Signs and symptoms of Cystic Fibrosis include: Chronic cough, sputum production, wheezing, obstruction, salty sweat, clubbing of fingers, chronic sinusitis, nasal polyps, recurrent pancreatitis, pancreatic enzyme insufficiency, distal intestinal obstruction syndrome, diabetes mellitus with respiratory symptoms, growth retardation, delay in sexual development, fat-soluble vitamin deficiencies (vitamins A, D, E and K), Signs of liver cirrhosis and portal hypertension, and male infertility. There are a number of ways that CF is diagnosed. One way is to do a sweat test. A sweat test is when a drug is administered that will stimulate the sweat glands through iontophoresis. The sweat produced is then absorbed into a test filter paper to analyze the chloride content. If content is greater then the normal value the test is positive. This test is done twice to ensure accuracy. In addition to the sweat test a DNA analysis can be done to look for the mutation of the CF gene. Some other tests may include Chest x-rays/CT scans, fecal fat tests, lung function tests, measurement of pancreatic function, Secretin stimulation test, Trypsin and Chymotrypsin in stool, upper GI and small bowel series. It is important to measure pulmonary function throughout life with CF. Pulmonary function tests are done to measure the flow of air in and out of the lungs. Two of the most common measurements are FEV1 (forced expiratory volume in one second) and FVC (forced vital capacity). On average, pulmonary measurements should be done two to four times a year to monitor treatment and recovery of pulmonary functions. Most CF complications and deaths are related to lung disease. Maintaining pulmonary functions are crucial by daily treatment/physiotherapy and exercise. Physiotherapy techniques can include:

· Active cycle of breathing (ACBT): mobilizes and clears mucus with breathing control, deep breathing exercises, and forced expiration techniques. 15-30 minutes per session.

· Autogenic Drainage (AD): Mobilizes mucus by regulating expiratory flow volume.

· Positive Expiratory Pressure (PEP): uses a device that regulates expiratory flow by providing a fixed resistance pressure against the patient’s breaths. Two 10-15 minute sessions daily.

· High Pressure PEP: Forced expirations against a resistance pressure. 8-10 PEP breathing cycles followed by forcible expiratory maneuver to expel mucus.

· Oscillating PEP (flutter therapy): Uses a handheld oscillating positive pressure device (flutter); pressure and airflow oscillation frequency can be changed to match patient’s lung resonance frequency, which maximizes bronchial wall vibration, promoting clearance of the small airways. Each session lasts 10-15 minutes.

· Postural Drainage and percussion: Mainly used in treatment of infants. A variety of positions are used where gravity assists in drainage of mucus. Percussion to the chest is followed by deep breathing exercises with vibration on expiration. 2-3 times daily.

· High-Frequency Chest Wall Oscillation: Inflatable vest compresses chest wall at set frequencies during breathing maneuvers. Three 30 minute sessions daily.

Along with these techniques, exercise also can help pulmonary function. Both oral and inhaled medications can be used to treat CF. Oral medications can include anti-inflammatory agents to decrease the amount of inflammation in the airways, and to help thin the mucus. IV antibiotics and anti-inflammatory agents can also be used in treatment for patients with moderate cases.

Today research has allowed patients with CF to increase life expectancy a great deal. There is extensive research being done to improve treatments of patients. From the discovery in 1989 of the CF gene, understanding and treating CF has increased dramatically. Between the use of gene therapy and medications, CF patients are becoming more and more able to live a normal life than in the past. Currently, more than two dozen therapies are in development. Hopefully one day the complications due to CF will be minimized for patients, today.

References[]

- Interview with Amy Tremblay (patient with Cystic Fibrosis) generously giving information and accounts of life with CF

- Cystic Fibrosis Foundation Website http://www.cff.org/research

- Google Health Cystic Fibrosis Website https://health.google.com/health/ref/cystic+fibrosis

- “Growing Older With CF” A handbook for Adults Volume 1. Solvay Pharmaceuticals, Inc.

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