What is CF

Cystic fibrosis is an inherited disorder that causes severe damage to the lungs,
digestive system and other organs in the body.

Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices.

A defective gene causes the secretions to become sticky and thick. Instead of acting
as a lubricant, the secretions plug up tubes, ducts and passageways, especially in
the lungs and pancreas.

Causes

In cystic fibrosis, a defect (mutation) in the CFTR gene changes a protein that
regulates the movement of salt in and out of cells.

The result is thick, sticky mucus in the respiratory, digestive and reproductive
systems, as well as increased salt in sweat.

Many different defects can occur in the gene. The type of gene mutation is
associated with the severity of the condition.

Children need to inherit one copy of the gene from each parent in order to have the
disease.

If children inherit only one copy, they won't develop cystic fibrosis. However, they will
be carriers and possibly pass the gene to their own children.

Risk factor

 Family history. Because cystic fibrosis is an inherited disorder, it runs in

families.

 Race. Although cystic fibrosis occurs in all races, it is most common in white

people of Northern European ancestry.
Clinical presentation
Median age at diagnosis of cystic fibrosis is 6-8 months; two thirds of patients are
diagnosed by 1 year of age.

The age at diagnosis varies widely, however, as do the clinical presentation, severity
of symptoms, and rate of disease progression in the organs involved.

Clinical manifestations vary with the patient's age at presentation.

Neonates may present with meconium ileus or, rarely, with other features such as
anasarca.

Patients younger than 1 year may present with wheezing, coughing, and/or recurring
respiratory infections and pneumonia.

GI tract presentation in early infancy may be in the form of steatorrhea, failure to

thrive, or both.

Patients diagnosed later in childhood or in adulthood are more likely to have

pancreatic sufficiency and often present with chronic cough and sputum production.

Approximately 10% of patients with cystic fibrosis remain pancreatic sufficient; these
patients tend to have a milder course.

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

The goals of treatment include:

 Preventing and controlling infections that occur in the lungs

 Removing and loosening mucus from the lungs

 Treating and preventing intestinal blockage

 Providing adequate nutrition

Medication
The options may include:

 Antibiotics to treat and prevent lung infections

 Anti-inflammatory medications to lessen swelling in the airways in your lungs

 Mucus-thinning drugs to help you cough up the mucus, which can improve
lung function

 Inhaled medications called bronchodilators that can help keep your airways
open by relaxing the muscles around your bronchial tubes

 Oral pancreatic enzymes to help your digestive tract absorb nutrients

References

1. What is cystic fibrosis? National Heart, Lung, and Blood Institute.

http://www.nhlbi.nih.gov/health/health-topics/topics/cf

2. Goldman L, et al., eds. Cystic fibrosis. In: Goldman-Cecil Medicine. 25th ed.
Philadelphia, Pa.: Saunders Elsevier; 2016.

3. Kliegman RM, et al. Cystic fibrosis. In: Nelson Textbook of Pediatrics. 20th ed.
Philadelphia, Pa.: Elsevier; 2016.

4. National Library of Medicine. Cystic fibrosis. Genetics Home Reference.

https://ghr.nlm.nih.gov/condition/cystic-fibrosis

5. LeGrys VA, Yankaskas JR, Quittell LM, Marshall BC, Mogayzel PJ Jr.
Diagnostic sweat testing: the Cystic Fibrosis Foundation guidelines. J Pediatr.
2007