What is Cystic Fibrosis?

Cystic fibrosis (CF) is a genetic disorder that affects in particular the lungs, but also the pancreas, liver, kidneys, and intestines.

Long-term symptoms include difficulty breathing and coughing up mucus as a result of regular lung infections. Other signs may include sinus infections, poor growth, fatty stool, clubbing of the fingers and toes, and infertility in some males. Different CF patients may have different degrees of symptoms.

As mentioned above, CF is a genetic disease which means a CF patient inherits this disease through their parents’ genes. If both parents are carriers of the CF gene, i.e. both have one copy of the defective gene, but they do not have the disease themselves, then their child will have a 25% chance of inheriting both defective copies and having cystic fibrosis, a 50% chance of inheriting one defective copy and being a carrier, and a 25% chance of not having CF at all or carrying the CF gene.

Cause

It is caused by the presence of mutations in both copies of the parents’ gene for the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein.  CFTR is involved in the producing of sweat, digestive fluids, and mucus. When CFTR is not working, secretions which are usually thin, instead become thick. The condition is diagnosed by a sweat test and genetic testing. Screening of infants can also take place at birth.

Treatment

At present, there is still no cure for cystic fibrosis. All lung infections can be treated with antibiotics which can be given intravenously, inhaled or orally. Lung transplantation may be an option if lung function continues to decline. Pancreatic enzyme replacement and fat-soluble vitamin supplements are important.  Daily airway clearance techniques such as chest physiotherapy is equally important.

On average, the life expectancy of a CF patient is about 37 years. Lung problems are the cause of death in 80% of people with CF.