CYSTIC FIBROSIS

 Basic information

description

Cystic fibrosis (CF) is an inherited disease affecting the body's glands that produce secretions such as mucus, sweat, tears, saliva, and digestive juices. These secretions are normally thin and slippery and act as a lubricant. In CF, the secretions are thick and sticky. This means the lungs, pancreas, intestines, and other organs become clogged. One in 3,200 newborns is born with CF in the United States.

FREQUENT SIGNS & SYMPTOMS

• Symptoms will vary in different patients.
• In a newborn, there are thick, sticky stools (meconium). They may cause intestinal obstruction.
• Delayed growth.
• Poor weight gain despite good appetite.
• Bad-smelling, large, fatty stools.
• Sometimes, because the air is chronically trapped in the chest, the child gets a barrel-chested appearance.
• Chronic cough or wheezing.
• Sticky, hard-to-cough-up sputum.
• Salty sweat.
• Polyps in the nose.
• Frequent chest and sinus infections.
• Rounding (clubbing) of the fingertips or toes.
• Rectal prolapse and intussusception (bowel disorder).

causes

A defective gene. A person can carry the gene for cystic fibrosis, but not develop the disease. If both parents are carriers of the defective gene, there is a 25% chance that a child will have the disease, a 50% chance the child will be a carrier, and a 25% chance the child will not have the disease or be a carrier. Carriers have no symptoms of CF.

risk increases with

Family history of cystic fibrosis.

PREVENTIVE MEASURES

If you have a family history of cystic fibrosis, seek genetic counseling and testing before starting a family.

expected outcomes

CF is a lifelong condition. It is currently considered incurable. Careful long-term care and treatment can help those affected lead reasonably normal and productive lives. Many live into their thirties or forties. Gene therapy is being studied. Medical research is ongoing to find a cure.

possible complications

• Repeated respiratory infections.
• CF can lead to various medical conditions such as delayed puberty, infertility, diabetes, osteoporosis, digestive problems, and lung and heart disorders.

 diagnosis & treatment

general measures

• Your child's health care provider will do a physical exam. Medical tests include sweat tests (done twice). CF is diagnosed if sweat contains high amounts of salt. Very young infants may not produce enough sweat, so genetic blood studies may be done for diagnosis. Tests may be done on lung, pancreas, and liver functions.
• Testing of brothers and sisters of a child with CF is usually recommended even if they have no symptoms.
• A medical team (for lung therapy, diet needs, and medical help) will be provided for the child's care .
• Goals of therapy are to prevent and treat infections, keep lungs free of sputum, improve airflow, and provide adequate calories and nutrition .
• Learn as much as possible about CF. Parents may want to join a support group.
• You will be instructed on how to perform daily postural drainage to drain mucus from the lungs. This is done with clapping on the front and back of the chest. Mechanical aids and special vests are available to help.
• Keep your child's vaccines (including flu) up-to-date.
• Avoid any exposure to secondhand smoke.
• Transplants for lung and other organs are possible.
• To learn more: Cystic Fibrosis Foundation, 6931 Arlington Road, Bethesda, MD 20814; (800) 344-4823; website: www.cff.org.

medications

Drug therapy may include digestive enzymes to help with digestion, antibiotics for infections, mucus-thinning drugs, and bronchodilators to help open airways.

activity

Exercise is vital to reduce the impact and progression of CF. A regular exercise program will be prescribed.

diet

Eat a diet high in calories, fat, and protein. Vitamin supplements and supplemental nutrition may be needed.

 notify our office if

• You suspect your child has cystic fibrosis.
• After diagnosis, symptoms worsen or change.

Special Notes: