By Taliyah and Selina. Cystic Fibrosis CF Mucoviscidosis.

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Presentation transcript:

By Taliyah and Selina

Cystic Fibrosis CF Mucoviscidosis

CF is an autosomal recessive chromosome. It is due to a mutation in the Cystic Fibrosis gene on chromosome 7 About 30,000 people in the United States have cystic fibrosis. It is one of the most common inherited diseases among Caucasians. About 1,000 new cases of cystic fibrosis are diagnosed each year. It is a 75% chance that their child will get it if they are both carriers

1. Symptoms in newborns may include: Delayed growth Failure to gain weight 2. Symptoms related to bowel function may include: Stomach pain from severe constipation Increased gas, bloating, or a stomach that appears swollen Nausea and loss of appetite Weight loss

3. Symptoms related to the lungs and sinuses may include: Coughing or increased mucus in the sinuses or lungs Fatigue Nasal congestion Recurrent episodes of pneumonia. Symptoms in someone with cystic fibrosis include: ◦Fever ◦Increased coughing ◦Increased shortness of breath ◦Loss of appetite ◦More sputum Sinus pain or pressure caused by infection 4. Symptoms that may be noticed later in life: Repeated inflammation of the pancreas (pancreatitis) Respiratory symptoms

A blood test is available to help detect Cystic fibrosis, it looks for variations in a gene known to cause the disease. Other tests use to diagnose Cystic Fibrosis include: Immunoreactive trypsinogen (IRT) test is a standard newborn screening test for Cystic Fibrosis. A high level of IRT suggests possible Cystic Fibrosis and requires further testing. Sweat chloride test. A high salt level in the patient's sweat is a sign of the disease Other tests that identify problems that can be related to cystic fibrosis include: Chest x-ray or CT scan Fecal fat test Lung function tests Measurement of pancreatic function

Unfortunately, doctor haven’t found a cure for people suffering from this disease. Very fatal Usually dies of lung failure Can stay alive by getting proper treatment, keeping a balanced diet, and proper excercise

An early diagnosis of Cystic Fibrosis and a treatment plan can improve survival and the quality of life. Follow-up and monitoring is important. If possible, patients should be cared for at cystic fibrosis specialty clinics, which can be found in many communities. When children reach adulthood, they should transfer to a cystic fibrosis specialty center for adults. Treatment for lung problems includes: Antibiotics to prevent and treat lung and sinus infections. Inhaled medicines to help open the airways DNA enzyme therapy to thin mucus and make it easier to cough up High concentration of salt solutions (hypertonic saline) Flu vaccine and pneumococcal polysaccharide vaccine (PPV) yearly Lung transplant is an option in some cases Oxygen therapy may be needed as lung disease gets worse Treatment for bowel and nutritional A special diet high in protein and calories for older children and adults Pancreatic enzymes to help absorb fats and protein Vitamin supplements, especially vitamins A, D, E, and K

Working on finding a cure for CF Finding new treatments for patients (especially for kids) Life expectancy is growing

Millions of Americans carry the defective CF gene, but do not have any symptoms. That's because a person with CF must inherit two defective CF genes (one from each parent). Children who inherit a faulty gene from each parent will have cystic fibrosis. Children who inherit one faulty gene and one normal gene will be "CF carriers." Cystic fibrosis carriers usually have no symptoms of cystic fibrosis, but they can pass the faulty gene on to their children. It is estimated that 1 in 29 Caucasian Americans have the CF gene.

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(2010, 04 28). Retrieved from Kaneshiro, N. K. (2012). Retrieved from A.D.A.M Medical Encyclopedia website: