Cystic fibrosis is a life-threatening disease caused by a defective gene and affecting about 30,000 children in America. There is no cure for it so far, but there are lots of promising experiments and clinical studies going on to find a genetic therapy to cure cystic fibrosis.
Humans transmit the genetic code to the next generation through DNA, containing 23 pairs of chromosomes. The seventh chromosome contains the defective gene that causes cystic fibrosis. There are over ten million Americans who this defective gene without having the disease. When both parents are carriers there is a 25% chance that the child will have a recessive gene; that is, the child has two copies of the defective gene from both parents. This gene signals the epithelial cells to produce cystic fibrosis trans-membrane conductance regulator (cystic fibrosisTR). It is a bad protein found in the digestive system, skin and reproductive system of cystic fibrosis patients.
When the cystic fibrosisTR is not normal, the regulation of salt through the membranes becomes defective. This results in the secretions of the lining such as mucus, digestive juices and sweat, becoming thick and sticky.
The respiratory system secretes thin and slippery mucus to clear away the foreign bodies and microorganisms that invade the system. In cystic fibrosis patients this mucus, thick and sticky, not only fails to clean the system but also blocks the lungs and airways and creates a life-threatening problem with the respiratory system. As the microorganisms are not cleared there are serious infections, like bronchitis, pneumonia and influenza. So a cystic fibrosis patient has to take care of his respiratory system constantly, with bronchodilators, electrical clappers and electrical inflatable vest vibrators. Newer antibiotics control the infections to a good extent.
In the digestive system the ducts between the pancreas and intestine and between the liver and intestine are blocked. Due to the shortage of enzymes and bile, the cystic fibrosis patient is unable to digest fats and proteins. He becomes malnourished, underweight and weak. Enzyme and vitamin supplements take care of the problem to an extent. In the reproductive system the duct between the testes and prostate get blocked, and so a majority of cystic fibrosis patients are sterile.
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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.
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