Cystic fibrosis is a hereditary disease that affects the entire body, causing progressive disability and early death. Cystic fibrosis affects the entire body and impacts growth, breathing, digestion, and reproduction. Difficulty breathing and insufficient enzyme production in the pancreas are the most common symptoms.
The Pancreas of patients with Cystic Fibrosis fails to produce enough enzymes that are necessary to break down food. As a result the food eaten retains its fats and most of its nutrients as it passes through the body.
The bronchial tubes in the lungs also malfunction and produce a thick, sticky mucus. Germs multiply in this mucus and cause respiratory infection such as pneumonia, accompanied by a cough and high fever that is more severe than normal.
A multitude of other symptoms, including sinus infections, poor growth, diarrhea, and potential infertility (mostly in males) result from the effects of cystic fibrosis on other parts of the body. Patients with Cystic Fibrosis also sweat profusely and their perspirations also contains an unusually high percentage of salt.
Cystic fibrosis is the most common life-limiting recessive disease among people of European heritage. Two copies of the recessive mutated gene, one from each parent is needed by the human body to develop Cystic Fibrosis.
Because cystic fibrosis testing is expensive, testing is often performed on just one parent initially. If that parent is found to be a carrier of a CFTR gene mutation, the other parent is then tested to calculate the risk that their children will have cystic fibrosis. Cystic fibrosis can result from more than a thousand different mutations and, as of 2006, it is not possible to test for each one. Most commercially available tests look for 32 or fewer different mutations.
Couples who are at high risk for having a child with cystic fibrosis; i.e. cystic fibrosis has developed in family members, will often opt to perform further testing before or during pregnancy. After birth cystic fibrosis may be diagnosed in newborn with sweat testing, or genetic testing.
Most states and countries do not screen for cystic fibrosis routinely at birth. Children with cystic fibrosis typically do not gain weight or height at the same rate as their peers and occasionally are not diagnosed until investigation is initiated for poor growth. Males tend to have a longer life expectancy than females but the reason is unknown.
The Pancreas of patients with Cystic Fibrosis fails to produce enough enzymes that are necessary to break down food. As a result the food eaten retains its fats and most of its nutrients as it passes through the body.
The bronchial tubes in the lungs also malfunction and produce a thick, sticky mucus. Germs multiply in this mucus and cause respiratory infection such as pneumonia, accompanied by a cough and high fever that is more severe than normal.
A multitude of other symptoms, including sinus infections, poor growth, diarrhea, and potential infertility (mostly in males) result from the effects of cystic fibrosis on other parts of the body. Patients with Cystic Fibrosis also sweat profusely and their perspirations also contains an unusually high percentage of salt.
Cystic fibrosis is the most common life-limiting recessive disease among people of European heritage. Two copies of the recessive mutated gene, one from each parent is needed by the human body to develop Cystic Fibrosis.
Because cystic fibrosis testing is expensive, testing is often performed on just one parent initially. If that parent is found to be a carrier of a CFTR gene mutation, the other parent is then tested to calculate the risk that their children will have cystic fibrosis. Cystic fibrosis can result from more than a thousand different mutations and, as of 2006, it is not possible to test for each one. Most commercially available tests look for 32 or fewer different mutations.
Couples who are at high risk for having a child with cystic fibrosis; i.e. cystic fibrosis has developed in family members, will often opt to perform further testing before or during pregnancy. After birth cystic fibrosis may be diagnosed in newborn with sweat testing, or genetic testing.
Most states and countries do not screen for cystic fibrosis routinely at birth. Children with cystic fibrosis typically do not gain weight or height at the same rate as their peers and occasionally are not diagnosed until investigation is initiated for poor growth. Males tend to have a longer life expectancy than females but the reason is unknown.