For young adults cystic fibrosis is considered a common cause of chronic lung disease.

Can be a cause of many deaths from this fatal hereditary disorder.

Autosomal recessive affecting approximately 1 in 3000 whites

Carriers are seen in 1 in 25

Can be described as a problem with a protein that allows for chloride to cross tissue membranes correctly. This channel is altered leading to several consequences.

There are thousands of gene mutations which can make diagnosis difficult

Complications are often seen in the respiratory tract

·      Infection
·      Lung scaring
·      Acute and Chronic breathing difficulties
·      Bronchitis
·      Bronchiectasis
·      Pneumonia
·      Coughing blood (Hemoptysis)

Symptoms of a young child include:

.      Meconium Ileus is often the first symptom seen in some newborns
·      Chronic respiratory problems
·      Chronic respiratory infections
·      Pancreatitis
·      Cough
·      Difficulty with exercising due to respiratory difficulty
·      Sputum that can be very heavy
·      Abdominal pain
·      Diarrhea
·      Clubbing
·      Sinus tenderness
·      Nasal polyps
·      Stools that change in color
·      Stools that are “greasy” or foul smelling

A “sweat test” will show elevated sodium and chloride

This test is necessary for diagnosis

Should be performed on two separate days

Genotyping may be performed additionally

Blood tests are important as are Pulmonary function studies

Changes to the lungs can be seen on X-ray

Treatment:

·         Often treatment involves clearing of excess lung secretions
·         Appointment with local or regional center who specialized in cystic fibrosis
·         Antibiotics for infection
·         Pancreatic enzyme replacement
·         Other nutritional supplements
·         Inhaled recombinant human DNA (rhDNase)
·         Inhaled Antibiotics
·         Albuterol

Vacinations yearly are advised for those who have cystic fibrosis due to other infections
·      Pneumococcal infection
·      Influenza infection

Lung Transplant is the only definitive treatment – for advanced cases

Prognosis:

· Patients are surviving longer and with better quality of life
· Median age is increasing and is now over age 30
· Death can occur from complications such as infection, respiratory failure, or cor pulmonale