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WHAT IS CYSTIC FIBROSIS??? Cystic fibrosis (also known as CF or mucoviscidosis) is a common recessive genetic disease which affects the entire body, causing progressive disabilityand often early death. The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s. Difficulty breathing is the most serious symptom and results from frequent lung infections that are treated with, though not cured by, antibiotics and other medications. A multitude of other symptoms, including sinus infections, poor growth, diarrhea, and infertility result from the effects of CF on other parts of the body.

only one is needed to prevent cystic fibrosis.98 per 10. or by a sweat test in early childhood. digestive juices. Individuals with cystic fibrosis can be diagnosed before birth by genetic testing.000 and the highest carrier rate in the world with 1 in 19 individuals classed as carriers. making it one of the most common life-shortening inherited diseases in the United States.000 Americans have CF. 2. Ireland has both the highest incidence of CF in the world. Cystic fibrosis is Ireland's most common life-threatening inherited disease. and mucus. Approximately 30. Ireland also has the largest proportion of families with more than one child suffering from CF. CF develops when neither gene works normally and therefore has autosomal recessive inheritance. Although most people without CF have two working copies of the CFTR gene. Ultimately. • • • • . This gene is required to regulate the components of sweat. lung transplantation is often necessary as CF worsens.HOW IS CF CAUSED??? • CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR).

frequent chest infections and coughing or shortness of breath. . and increased metabolic demand due to chronic illness.The poor growth in children typically presents as an inability to gain weight or height at the same rate as their peers and is occasionally not diagnosed until investigation is initiated for poor growth. As the child grows. such as bowel obstruction due to meconium ileus in newborn babies. Males can be infertile due to congenital absence of the vas deferens. accumulation of thick. poor absorption of nutrients through the gastrointestinal tract. The causes of growth failure are multi-factorial and include chronic lung infection. Ciliatedepithelial cells in the patient have a mutated protein that leads to abnormally viscous mucus production. Symptoms often appear in infancy and childhood. sticky mucus. he or she will need to exercise to release mucus in the alveoli.SIGNS AND SYMPTOMS • The hallmark symptoms of cystic fibrosis are salty tasting skin poor growth and poor weight gain despite a normal food intake.

Consequently. cystic fibrosis can manifest itself as a coagulation disorder. IX. a coagulation evaluation may be warranted to determine whether there is an underlying disease. VII. Because factors II. . and X (clotting factors) are vitamin K–dependent.• In rare cases. when a child presents with unexplained bruising. leaving the child with very low reserves. low levels of vitamin K can result in coagulation problems. Young children are especially sensitive to vitamin K malabsorptive disorders because only a very small amount of vitamin K crosses the placenta.

A diagram showing clinical manifestations of cystic fibrosis .

leading to a variety of symptoms. Among these is allergic bronchopulmonary aspergillosis. In later stages. Another is infection with Mycobacterium avium complex (MAC).Lung and sinus • Lung disease results from clogging of the airways due to mucus build-up. In the early stages. decreased mucociliary clearance and resulting inflammation. a group of bacteria related to tuberculosis. heart failure. high blood pressure in the lung (pulmonary hypertension). Homophiles influenza. which can cause a lot of lung damage and does not respond to common antibiotics. Other symptoms include coughing up blood (hemoptysis). incessant coughing. . Many of these symptoms occur when bacteria that normally inhabit the thick mucus grow out of control and cause pneumonia. people with CF more commonly develop other types of lung disease. Inflammation and infection will cause injury and structural changes to the lungs. Staphylococcus aurous. in which the body's response to the common fungus Aspergillus fumigatuscauses worsening of breathing problems. and Pseudomonas aeruginosa are the three most common organisms causing lung infections in CF patients. difficulties getting enough oxygen to the body (hypoxia). copious phlegm production. and decreased ability to exercise are common. changes in the architecture of the lung such as pathology in the major airways (bronchiectasis) further exacerbate difficulties in breathing. and respiratory failure requiring support with breathing masks such as bi-level positive airway pressure machines or ventilators. In addition to typical bacterial infections.

These polyps can block the nasal passages and increase breathing difficulties. and headaches. . leading to infection. This may cause facial pain. fever. Individuals with CF may develop overgrowth of the nasal tissue (nasal polyps) due to inflammation from chronic sinus infections.• Mucus in the paranasal sinuses is equally thick and may also cause blockage of the sinus passages. Recurrent sinonasal polyps can occur in as many as 10% to 25% of CF patients. • Cardio respiratory complications are the most common cause of death (~80%) in patients followed by most CF centers in the United States. nasal drainage.

which are responsible for making insulin. . leading to a type of diabetes that is unique to those with the disease. and is one of the principal non-pulmonary complications of CF. people with CF often develop clubbing of their fingers and toes due to the effects of chronic illness and low oxygen in their tissues.Endocrine • The pancreas contains the islets of Langerhans. This cystic fibrosis related diabetes (CFRD) shares characteristics that can be found in Type 1 and Type 2 diabetics. In addition. Vitamin D is involved in calcium and phosphate regulation. Damage of the pancreas can lead to loss of the islet cells. a hormone that helps regulate blood glucose. Poor uptake of vitamin D from the diet because of malabsorption can lead to the bone disease osteoporosis in which weakened bones are more susceptible to fractures.

Clubbing of the fingers in a person with cystic fibrosis .

Infertility • Infertility affects both men and women. These men make normal sperm but are missing the tube (vas deferens). . previously undiagnosed form of CF. which connects the testes to the ejaculatory ducts of the penis. Some women have fertility difficulties due to thickened cervical mucus or malnutrition.Many men found to have congenital absence of the vas deferens during evaluation for infertility have a mild. In severe cases. At least 97% of men with cystic fibrosis are infertile. but not sterile and can have children with assisted reproductive techniques. malnutrition disrupts ovulation and causes amenorrhea.

CF is considered an autosomal recessive disease. only one is needed to prevent cystic fibrosis. The most common mutation. is a deletion (Δ) of three nucleotides that results in a loss of the amino acid phenylalanine (F) at the 508th (508) position on the protein. This mutation accounts for two-thirds (66-70%) of CF cases worldwide and 90 percent of cases in the United States.Cause • CF is caused by a mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR). CF develops when neither allele can produce a functional CFTR protein. Although most people have two working copies (alleles) of the CFTR gene. . there are over 1. ΔF508. however.500 other mutations that can produce CF. Thus.

and cayston is often given for months at a time in order to improve lung function by impeding the growth of colonized bacteria. and are usually chosen based on the results of a sputum analysis and the patient's past response.This prolonged therapy often necessitates hospitalization and insertion of a more permanent such as a peripherally inserted central catheter (PICC line) or Port-aCath. even when they are considered healthy. Many bacteria common in cystic fibrosis are resistant to multiple antibiotics and require weeks of treatment with intravenous antibiotics such as vancomycin. Antibiotics are absolutely necessary whenever pneumonia is suspected or there has been a noticeable decline in lung function. tobramycin. Inhaled therapy with antibiotics such as tobramycin. The aminoglycoside antibiotics (e. Oral antibiotics such as ciprofloxacin or azithromycin are given to help prevent infection or to control ongoing infection. meropenem.g. ciprofloxacin. andpiperacillin. tobramycin) used can cause hearing loss. colistin.Antibiotics • Many CF patients are on one or more antibiotics at all times. in order to prophylactically suppress infection. In order to prevent these side-effects. damage to the balance system in the inner ear or kidney problems with long-term use. the amount of antibiotics in the blood are routinely measured and adjusted accordingly .

however there is a small time frame when transplantation is feasible as the patient must be healthy enough to endure the procedure. individuals with CF must have both lungs replaced because the remaining lung might contain bacteria that could infect the transplanted lung. Although single lung transplantation is possible in other diseases. Lung transplantation is considered when lung function declines to the point where assistance from mechanical devices is required or patient survival is threatened. A pancreatic or liver transplant may be performed at the same time in order to alleviate liver disease and/or diabetes.Transplantation • Lung transplantation often becomes necessary for individuals with cystic fibrosis as lung function and exercise tolerance declines. This point typically occurs when lung function declines to approximately 20 to 30 percent. .