cystic fibrosis

Cystic Fibrosis is one of the most common causes of Chronic Lung Diseases for young adults.

It is an Autosomal recessive disorder affecting approximately 1 in 3000 whites.

Carriers are seen in 1 in 25.

It is classified as a Fatal Hereditary Disorder and can be the cause of death.

The exact problem appears to be with a protein that allows for chloride to cross the tissue membranes of lung cells correctly.

This channel is altered leading to several consequences including lung congestion, infections, and malabsorption of nutrients.

There are thousands of gene mutations which can make diagnosis difficult.

Complications of the respiratory tract

cystic fibrosis fingersSymptoms 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


Diagnosis

  • 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

Vaccinations 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
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