Introduction:
A diagnosis of cystic fibrosis was once assumed to be an early childhood death sentence. Today, the median lifespan is 30 years. Children with CF attend school normally, graduate from college, and assume their places in the adult world. Still, the shortened lifespan is painfully poignant. But treatment continues to advance rapidly. Those born with CF today may see a dramatically brighter outlook by the time they are 10 or 20 years old.

What is it?
Cystic fibrosis is an inherited condition where important membrane linings do not function properly. Thickened, rubbery mucus results in blockage and infection throughout the respiratory tract. The pancreatic and bile ducts are blocked, leading to severe digestive problems. Sweat and other secretions contain increased salt.

CF is the major cause of severe chronic lung disease in children. It is also a leading cause of pancreatic problems.

Who gets it?
CF is inherited as a recessive condition. Both parents must carry the recessive gene and pass the gene to their child in order to result in CF. It can occur in any ethnic group, but it most common among those of Northern or Central European ancestry, where it affects about 1 in 3500 children.

Why is such a deadly recessive gene so common? Some theorize that carriers of the gene were protected against the ravages of cholera.

What are the symptoms?
CF can cause a wide variety of symptoms in many organ systems.

The most prominent feature of CF is usually chronic problems with the respiratory system. This might include a chronic cough (to attempt to move the thick mucus) especially in the morning or after exertion. Children with CF might develop severe or frequent bronchiolitis, pneumonia, and/or sinusitis. Wheezing and clubbing of the fingernails are common.

Problems stemming from the GI tract are the next most common feature. This might include difficulty passing stool (especially that first meconium stool); rectal prolapse; large, smelly, greasy stools; and failure to gain weight (even with a large appetite).

Is it contagious?
No

How long does it last?
At present, CF is a lifelong condition with a median survival of about thirty years.

How is it diagnosed?
CF may be diagnosed on newborn screening tests in some areas. When the diagnosis is suspected, because of family history or classic symptoms, specific testing is done. This might include a sweat chloride test, genetic testing, a nasal membrane test, or a variety of other studies.

How is it treated?
When possible, CF treatment should be provided by a team of people who specialize in this area. Chest therapy is aimed at keeping the airways hydrated and clear, and treating infections aggressively. Nutritional therapy includes replacing pancreatic digestive enzymes and tailoring the diet and supplements to match the child’s needs.

Comprehensive preventive care is important, coupled with aggressive treatment of complications when they inevitably arise.

How can it be prevented?
At present, the only way to prevent conceiving a child with CF is to avoid two carriers conceiving together.