In the early stages, incessant coughing, copious phlegm production, and decreased ability to exercise are common. Many of these symptoms occur when bacteria that normally inhabit the thick mucus grow out of control and cause pneumonia. In later stages, changes in the architecture of the lung, such as pathology in the major airways bronchiectasisfurther exacerbate difficulties in breathing. Other signs include coughing up blood hemoptysishigh blood pressure in the lung pulmonary hypertensionheart failuredifficulties getting enough oxygen to the body hypoxiaand respiratory failure requiring support with breathing masks, such as bilevel positive airway pressure machines or ventilators.
Is cystic fibrosis tested on the newborn screen? What is cystic fibrosis? Cystic fibrosis CF is one of the most common life threatening genetic diseases, affecting approximately 1 out of 3, people. The severity of CF varies, with some children showing symptoms at birth, and others not diagnosed until they are teenagers or adults.
In people with CF, a defective gene causes the body to produce an abnormally thick, sticky mucus that clogs the lungs and leads to life threatening lung infections.
These thick secretions also obstruct the pancreas, preventing digestive enzymes from reaching the intestines to help break down and absorb food. Cystic fibrosis does not affect intelligence. Most males with the condition are infertile.
Is there treatment for cystic fibrosis? CF treatment has improved dramatically in the past four decades, although there is no cure. Treatment includes antibiotics, dietary enzyme supplements and physical therapy to help clear the lungs. A lung transplant may be an option for some patients.
In the past, most patients with CF did not reach adulthood. Now most survive into their 30s, with the average life expectancy being about 37 years. How is cystic fibrosis inherited?
Cystic fibrosis is inherited in an autosomal recessive manner.
Our genes come in pairs, with one copy inherited from each parent. Some genes have mutations in them, and do not function properly.
A person with one non-functional copy of the gene is a carrier. Carriers for CF have no symptoms, but can pass the non-functioning gene on to their children.
An individual must inherit two non-functioning CF genes — one from each parent — to have CF. If both parents are carriers there is a 1 in 4 25 percent chance that both will pass on the non-functioning gene, which would result in a pregnancy affected with cystic fibrosis. How do I know if I am a carrier of cystic fibrosis?
Carrier testing is available through a simple blood test. There are over 1, mutations that have been found to cause CF. Carrier screening can be done for the most common of these, and will identify about 85 to 90 percent of carriers in the Caucasian population. Carrier testing is also available for other ethnic groups, but the detection rates and carrier frequencies vary.
If no one in your family has CF, your chance of being a carrier depends upon your ancestry: If my test result is normal, can I still be a carrier? If you have the test and no CF mutation is identified, your chance of being a CF carrier is reduced but not eliminated.
Some people are carriers of a rare CF mutation that cannot be detected by routine screening. There is still a small chance that someone with a negative test result could be a carrier and have a child with CF. What does it mean if I am a carrier?
If you are a carrier, there is no impact on your health. However, there is a chance that you could have a child with CF. Your partner should undergo carrier screening if this has not already been performed. If only one of you is found to be a carrier, the chance that you will have a child with CF is very low, although not completely eliminated.
If you are both carriers, each pregnancy will have a 1 in 4, or 25 percent chance of being affected with cystic fibrosis. Is prenatal testing available?Lung problems are responsible for death in 80% of people with cystic fibrosis. CF is most common among people of Northern European ancestry and affects about one out of every 3, newborns.
About one in 25 people is a carrier.
It is least common in Africans and Asians. Cystic Fibrosis (CF) Genetic condition that affects the body's ___ ___ and causes the internal organs, especially the lungs and digestive system, to become clogged with thick sticky mucus, resulting in chronic infections and inflammation of the lungs.
People who inherit one copy of the CFTR gene that contains a mutation (change) and one normal copy are considered CF carriers (or as having the ‘CF gene’).
CF carriers do not have cystic fibrosis but can pass their copy of the defective gene on to their children. Heterozygous carriers of autosomal recessive genes are more common than the affected homozygous individuals Mutant alleles may remain in a __________state without phenotypic expression in a family for numerous generations.
About 1 out of Caucasian people carries at least one of the fatal defective genes that cause cystic fibrosis, CF, or mucoviscidosis (in Europe) although carriers don’t show any signs of the disease.
If both parents carry a defective cystic fibrosis gene, each pregnancy has a 25 percent chance of producing a child with cystic fibrosis. During pregnancy, an accurate diagnosis of cystic fibrosis in the fetus is usually possible.