Genetic Mutations & Gene Therapy

What is Cystic Fibrosis? 

Cystic fibrosis (CF) is an inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (70,000 worldwide). A defective gene and its protein product cause the body to produce unusually think, sticky mucus that:

• clogs the lungs and leads to life-threatening lung infections; and
• obstructs the pancreas and stops natural enzymes from helped the body break down and absorb food.

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Symptoms

People with CF can have a variety of symptoms, including:

• very salty-tasting skin;
• persistent coughing, at times with phlegm;
• frequent lung infections;
• wheezing or shortness of breath;
• poor growth/weight gain in spite of a good appetite; and
• frequent greasy, bulky stools or difficulty in bowel movements.

Treatments and Drugs 

There is no cure for cystic fibrosis, but treatments can ease symptoms and reduce complications.

Medications

• Antibiotics. These drugs are used to treat and prevent lung infections. They may be swallowed in pill form, inhaled in a mist or delivered intravenously.
• Mucus-thinning drugs. Drugs that reduce the stickiness of your mucus make it easier to cough up the mucus, which improves lung function.
• Bronchodilators. Medications such as albuterol — delivered by an inhaler or a nebulizer — help keep your airways open by relaxing the muscles around your bronchial tubes.
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 Therapy 

People with cystic fibrosis need a way to physically remove thick mucus from their lungs. This is often done by manually clapping with cupped hands on the front and back of the chest — a procedure that's best performed with the person's head over the edge of the bed so that gravity helps clear the secretions.

There also are mechanical devices that help loosen lung mucus. They include:

• Chest clapper. This hand-held device can mimic the effect of cupped hands clapping over the ribs.
• Inflatable vest. This device vibrates at high frequency to loosen chest mucus.
• Breathing devices. Performing specific breathing exercises while exhaling through the device's tube or a mask may also be helpful.
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 Surgical and other procedures

• Feeding tube. Cystic fibrosis interferes with digestion, so you can't absorb nutrients from food very well. Your doctor may suggest using a feeding tube to deliver extra nutrition while you sleep. This tube may be threaded through your nose to your stomach, or surgically implanted.
• Lung transplant. Your doctor may suggest lung transplantation if you have severe breathing problems, life-threatening pulmonary complications or increasing resistance to antibiotics used to treat lung infections. Because both lungs are affected by cystic fibrosis, both need to be replaced. Lung transplantation is a major operation and may lead to serious complications, especially post-surgical infections.
• Bowel surgery. If you have developed a blockage in your bowel, you may need emergency surgery to remove it — especially if that part of your bowel has died. Intussusception, where a section of bowel has folded in on itself, also may require surgical repair.
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Risk Factors 

• Family history. Because cystic fibrosis is an inherited disorder, it tends to run in families.
• Race. Although cystic fibrosis occurs in all races, it is most common in white people of northern European ancestry.
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