What is Cystic Fibrosis?
- Cystic Fibrosis- An inherited life-threatening disorder that damages the lungs and digestive system.
- Cystic fibrosis affects the cells that produce mucus, sweat, and digestive juices. It causes these fluids to become thick and sticky. They then plug up tubes, ducts, and passageways.
Symptoms vary and can include:
Persistent coughing, at times with phlegm
Very salty-tasting skin
Frequent lung infections
Shortness of breath or wheezing
Inability to gain weight
Infertility in males
A defect in the Cystic Fibrosis Trans membrane Conductance Regulator (CFTR) gene causes cystic fibrosis. This gene makes a protein that controls the movement of salt and water in and out of your body's cells. In people who have CF, the gene makes a protein that doesn't work well. This causes thick, sticky mucus and very salty sweat.
How is the Disorder Inherited?
- Chromosome 7 is the location of this disease.
- Cystic fibrosis is caused by a recessive allele.
- Every person inherits two CFTR genes—one from each parent. Children who inherit a faulty CFTR gene from each parent will have CF.
- Children who inherit one faulty CFTR gene and one normal CFTR gene are "CF carriers." CF carriers usually have no symptoms of CF and live normal lives. However, they can pass the faulty CFTR gene to their children.
- The image below shows how two parents who are both CF carriers can pass the faulty CFTR gene to their children.
Cystic fibrosis has no cure. However, treatments have greatly improved in recent years.
These treatments involve:
- Preventing and controlling lung infections
- Loosening and removing thick, sticky mucus from the lungs
- Preventing or treating blockages in the intestines
- Providing enough nutrition
- Preventing dehydration
Most of these treatments require medicine.
If a genetic test or blood test suggests CF, a doctor will confirm the diagnosis using a sweat test. A sweat test measures the amount of salt in sweat. For this test, the doctor triggers sweating on a small patch of skin on an arm or leg.
There have been attempts at genetic counseling.