Cystic fibrosis is a genetic disorder that runs in families, affecting around 30,000 people in the United States and over 70,000 worldwide. It causes thick, sticky mucus to build up in various parts of the body, including the lungs, liver, intestines, digestive tract, and pancreas. This mucus can clog the lungs, leading to serious infections, and block the pancreas, preventing enzymes from breaking down food properly.
### History of Cystic Fibrosis
The medical community has known about cystic fibrosis since the 1930s when Dr. Dorothy Andersen studied it at New York Babies Hospital. Historical records suggest that the condition was recognized as far back as the 17th century. The name “cystic fibrosis” comes from the scarring and cysts that develop in the pancreas, although other organs are also affected. In the past, most children with this condition didn’t live long enough to start school. Today, many live into adulthood.
### Cause of Cystic Fibrosis
Cystic fibrosis is caused by a mutation in a gene responsible for a protein that regulates mucus, digestive fluids, and sweat. Everyone has two copies of this gene. The disorder occurs only when both copies have the mutation. A child has a 25% chance of inheriting the condition if both parents carry the gene and a 50% chance of being a carrier themselves.
### Symptoms of Cystic Fibrosis
One of the main symptoms of cystic fibrosis is difficulty breathing. Early signs include salty-tasting skin from sweat gland secretions, frequent coughing, and chest colds. These symptoms can be confused with other lung issues, so a blood test is necessary for confirmation. Other symptoms include:
– Poor growth and height in childhood
– Shortness of breath and wheezing
– Difficulty maintaining weight despite a normal diet
– Thick, sticky mucus buildup
– Frequent chest infections and coughs
– Poor nutrient absorption
– Bowel obstructions in newborns and difficulty with bowel movements
### Cystic Fibrosis Testing
Diagnosis often begins before birth if the mother is known to carry the gene. Genetic testing can identify the CF gene. For children, a sweat test measures salt levels in sweat to confirm the diagnosis. Other diagnostic methods include:
– Newborn screening: All states test newborns for CF through a genetic blood test.
– Sweat test: Confirms CF by measuring salt levels in sweat induced by a chemical applied to the skin.
– Genetic testing: Identifies the specific CF gene mutation.
– Chest x-rays and sinus x-rays: Check for lung and sinus issues.
– Lung function tests: Assess how well the lungs deliver oxygen to the blood.
– Sputum culture: Detects bacteria associated with a more aggressive form of CF.
– Prenatal screening: Tests like amniocentesis and chorionic villus sampling can detect CF in a fetus.
### Treatments
There is no cure for cystic fibrosis, but treatments can help manage symptoms. These include proactive treatment of lung infections and a nutrient-rich diet. Treatments are individualized but often focus on the lungs, gastrointestinal tract, and reproductive system. Other treatments include:
– Medications: Inhaled drugs to clear thick mucus.
– Gene therapy: Aims to introduce normal CFTR proteins into lung airways.
– Antibiotics: Prevent or treat infections, sometimes requiring IV delivery.
– Mucus-thinning drugs: Help clear lung mucus.
– Bronchodilators: Keep airways open by relaxing surrounding muscles.
– Lung transplant: An option for severe cases when other treatments fail to improve breathing.
Every year, about 1,000 new people are diagnosed with cystic fibrosis, with most diagnoses occurring by age two. Roughly half of those with CF are over 18 years old. While the average life expectancy is in the late thirties, some individuals live much longer, well into old age.