Cystic Fibrosis

Cystic fibrosis is a genetic disorder that affects the digestive and respiratory systems. Cystic fibrosis is a recessive disorder, meaning that both parents must pass on the gene for any of their children to have the disease. If a child only gets one faulty gene, they will be a carrier. People who suffer from cystic fibrosis inherit a defective gene in their chromosome seven, also called CTFR. CTFR stands for cystic fibrosis transmembrane conductance regulator. The protein, which is produced by CTFR, helps salt move out and in to cells. If the protein doesn't work right, that movement can be blocked, and a thick layer of mucous is made on the outside of the cell. Lung cells are the most affected by this disorder. The mucous blocks the airways in the lungs, which increases the chance of infection from bacteria.

Signs and Symptoms

• Coughing or Wheezing
• Respiratory illnesses (pneumonia or bronchitis)
• Weight loss
• Salty-tasting skin
• Greasy stools

Diagnosis and Detection

• Have about 2-5 times the normal amount of salt in their skin (Doctor's use a sweat test to measure the amount of salt)
• In newborns doctors can measure the amount of a protein called trypsinogen in the blood, if diagnosed with cystic fibrosis the level of protein is higher.
• Genetic tests can identify a faulty CFTR gene, using a sample of the patient's blood.

Treatments and Therapies

Although there is no cure for cystic fibrosis, new treatments are helping people with the disease live longer than before.

• Chest physical therapy, to free up the mucous
• Inhaled antibiotics, to kill bacteria
• Pancreatic enzyme replacement
• Gene therapy, in which a healthy CTFR is inserted in to the lungs

Prevalence in the Population

• Cystic Fibrosis is most common among Caucasians. One in twenty-five people of Europe carry one allele for the disorder.
• Ireland has the highest Cystic fibrosis population

Life Expectancy

• Most cystic fibrosis patients only live to be slightly more than thirty years old.