Cystic Fibrosis

Cystic Fibrosis is a genetic disorder that is caused by a defective gene, which causes the body to produce abnormally thick and sticky mucus. That affects the respiratory, digestive and reproductive systems involving the production of abnormally thick mucus linings in the lungs and can lead to fatal lung infections. The disease can also result in various obstructions of the pancreas, hindering digestion. An individual must inherit two defective cystic fibrosis genes, one from each parent, to have the disease. Each time two carriers of the disease conceive, there is a 25 percent chance of passing cystic fibrosis to their children; a 50 percent chance that the child will be a carrier of the cystic fibrosis gene; and a 25 percent chance that the child will be a non-carrier. An estimated 1 in 29 Caucasian Americans have the CF gene. The disease is the most common, deadly, inherited disorder affecting Caucasians in the United States. It's more common among those of Northern or Central European descent.

Symptoms

Symptoms in newborns may include: Delayed growth Failure to gain weight normally during childhood No bowel movements in first 24 to 48 hours of life Salty-tasting skin

Symptoms related to the lungs and sinuses include: Coughing Fatigue Nasal congestion caused by nasal polyps Recurrent episodes of pneumonia, symptoms in someone with cystic fibrosis: o Fever o Increased coughing o Increased shortness of breath o Loss of appetite o More sputum Sinus pain Symptoms that may be noticed later in life: Infertility (in men) Repeated inflammation of the pancreas (pancreatitis) Respiratory symptoms

Signs and tests

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A blood test is available to help detect CF. The test looks for variations in a gene known to cause the disease. Other tests use to diagnose CF include: 1. Immunoreactive trypsinogen (IRT) test is a standard newborn screening test for CF. A high level of IRT suggests possible CF and requires further testing. Sweat chloride test is the standard diagnostic test for CF. A high salt level in the patient's sweat is a sign of the disease.

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Treatment
An early diagnosis of CF and a comprehensive treatment plan can improve both survival and quality of life. Treatment for lung problems includes: Antibiotics to prevent and treat lung and sinus infections. They may be taken by mouth, or given in the veins or by breathing treatments. Inhaled medicines to help open the airways DNAse 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 Oxygen therapy may be needed as lung disease gets worse Lung problems are also treated with aerobic exercise or other therapies to thin the mucous and make it easier to cough up out of the lungs. These include a Percussion Vest, manual chest percussion, A-capella, or TheraPEP device. Treatment for bowel and nutritional problems may include: 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 Bibliography World Health Organization www.who.int/genomics/public/geneticdisease/en/index2.html PubMed Health www.ncbi.nlm.gov/pubmedhealth/PMH0001167