Cystic Fibrosis

Disorder affects many body systems

Cystic fibrosis is an inherited genetic disease in which the body produces abnormally thick, sticky mucus. All the parts of the body that have mucous-producing membranes are affected, especially the respiratory and digestive systems.

Cystic fibrosis is inherited in an autosomal recessive pattern. This means that a child must inherit two copies of the defective gene, one from each parent, to develop the disease. Cystic fibrosis affects about 1 in 4,000 births for white children. African-Americans, Latinos and Asians also inherit the disease but at much lower rates. About 30,000 people in the United States have cystic fibrosis.

Respiratory Symptoms

The respiratory system is affected by cystic fibrosis. The thick mucus in the lungs and airways causes symptoms such as:

• coughing
• wheezing
• shortness of breath with exercise
• repeated lung infections, such as pneumonia and bronchitis

Over time, repeated infections in the lungs causes tissue damage and loss of lung function. It becomes harder for the person with cystic fibrosis to breathe well.

Digestive Symptoms

The thick mucus caused by cystic fibrosis interferes with digestion, so symptoms include:

• a person can eat a lot but gain little weight
• bulky, fatty stools because the food passes through hardly digested.
• poor nutrition because vitamins aren't absorbed well

Diagnosis

Cystic fibrosis is usually diagnosed in children before they reach their first birthday. The disease causes a high amount of salt in the sweat, so a Mother kissing her baby may notice the baby's skin tastes salty. A sweat test (called "pilocarpine iontophoresis") is the standard test for cystic fibrosis. It is simple and painless and measures the amount of chloride in the sweat. A high result indicates that the child has the disease.

A genetic test can be done to look for the gene for cystic fibrosis. Genetic testing may be done if the sweat test results are unclear.

Treatment

There is no cure for cystic fibrosis, so treatment focuses on managing the symptoms. Treatment includes:

• Daily lung treatments and medications
• Antibiotics to treat lung infections
• Taking vitamins and digestive enzymes to help absorb nutrients in food
• Giving children extra calories to help them grow.

Future Research

The defective gene that causes cystic fibrosis was identified in 1989 on chromosome 7. Researchers are experimenting with correcting this gene. In 1993 a drug to thin mucus called Pulmozyme (dornase alfa) was introduced, and in 1997 an inhaled antibiotic called Tobi (tobramycin) was approved. Both have helped reduce the number of respiratory infections experienced by people with cystic fibrosis.

In the 1950s, children with cystic fibrosis did not live long. These days, affected children grow up to adulthood and often live to their mid-30s and beyond. There are many national foundations working to not only extend the lives of people affected by cystic fibrosis, but to actually cure the disease and (best of all) prevent it from occurring.

_Source:

"Frequently Asked Questions." About Cystic Fibrosis. 15 May 2007. Cystic Fibrosis Foundation. 2 Jan 2009