Cystic fibrosis
From ChildWiki.com
Cystic fibrosis is a rare genetic disease, that affects especially the lungs and the digestive system, so that the children that have this condition are much more exposed to repetitive infections of the lungs. Recent researches conducted in cystic fibrosis helped doctors understand better the disease and develop new therapies, and the research that is still under development can lead someday to a treatment that will cure the disease. Due to modern treatment methods, in developed countries and in North America, approximately 50% of the patients that have this disease reach age 35, but some can even live longer.
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[edit] What is Cystic Fibrosis
Cystic fibrosis is a severe genetic disease. Even if the disease is considered at at moment incurable, thanks to current progresses in medicine and pharmaceuticals, newborns that have this disease can hope for a longer and easier life than in the past.
The cystic fibrosis a disease that presently affects more than 30,000 children and young adults in the United States, does not allow the cells that compose the sweat glands under the skin and the paths to lungs, liver, digestive and reproductive system to function normally. This diseases is sometimes called the disease of the 65 roses. The name was invented by a small boy that heard his mother talking over the phone about his disease, and beacuse the pronunciation sounds similar, he understood sixty-five roses.
Because the inherited gene of cystic fibrosis, the affected cells in the body produce a defective protein form called CFTR (cystic fibrosis trans-membrane conductance regulator), which is found in the cells that cover the lungs, the digestive tract, the sweat glands and the reproductive system.
When the CFTR protein is defective, the sweat cells can not control the way chlorine passes through cell membranes. This will disturb the essential equilibrium of salt and water, needed to maintain a normal thin layer of fluid and mucus inside the lungs, pancreas and passing ways to other organs. The present mucus becomes thick, sticky, and hard to transport.
Normally, the mucus in the lungs captures bacteria and infections, that are later eliminated from the lungs. But when the disease is present, the thick and sticky mucus along with the bacteria it captured remain in the lungs, thus the lungs are easier infected.
Inside the pancreas, the thick mucus will block the canals that normally transport important enzymes towards the intestines to digest food. When this happens, the body can not process or absorb nutrients correctly, especially fats. Children with cystic fibrosis gain weight very slowly, even if the diet is normal and they have a high appetite.
[edit] Cystic Fibrosis Risk
Humans have 23 pairs of chromosomes that consist of DNA, an acid genetically inherited. The gene of cystic fibrosis is found on chromosome number 7. For a child to manifest the symptoms of the disease, two of these genes are needed, one from every parent.
Newborns that have only one gene of cystic fibrosis inherited from only one parent and a normal gene are only carriers for the disease. Carriers do not manifest symptoms, but they can transmit the gene to their children. Researchers estimate that almost 12 millions Americans are presently carriers of cystic fibrosis. If the parents are both carriers, the child has a risk of 1 out of 4 or 25% to manifest the symptoms and develop the disease.
Almost 1400 different mutations of the gene linked to cystic fibrosis can lead to the disease. Some mutations create lesser symptoms compared to others. About 70% of children with cystic fibrosis have it because they inherited the mutant gene Delta F508 from both parents. This can be detected through genetic tests, which will be done for the fetus and the newborn, but also for adults that plan to have children.
Amongst ethnic groups, Caucasians have the highest rate of inherited risk of cystic fibrosis, and Asians have the lowest rate. In the United States, almost 1 out of 3600 Caucasian infants are born with this condition compared to 1 out of 17000 African-american babies and only 1 out of 90000 Asian newborns. Even if the risk rate can vary, cystic fibrosis is present in all geographic regions of the world and in all nations.
It is not yet known why the gene of cystic fibrosis evolved in humans, but there are proofs that show it helped ancient generations fight against bacteria that caused cholera, a severe intestinal infection.
[edit] Cystic Fibrosis Manifestations in Children
The diagnose of cystic fibrosis can be set very early, usually in the infant years. Still, about 15% of people that have this disease are diagnosed later, sometimes even in the adult years. The symptoms are usually present at lungs and digestive organs level and can be more or less severe.
Few of the newborns with cystic fibrosis show signs from birth. Some are born with a disease called meconium ileus. Even if all newborns eliminate meconium, in case of cystic fibrosis this substance can be to sticky to pass through the intestine and the rectum, and it completely blocks them.
More frequently, infants born with cystic fibrosis do not gain weight as normally. They will not develop completely, even if they have a normal diet and a healthy appetite. In these infants, mucus blocks the passages from the pancreas and does not allow digestive juices to pass into the intestine. Without them, the intestines can not absorb fats completely and proteins, thus nutrients are eliminated from the body without being used, instead of helping the body grow.
The bad absorbency of fats makes the feces to look oily and compact and raises the risk of developing major lacks of vitamins that are soluble in fats(vitamin A, vitamin D, vitamin E and vitamin K. Unabsorbed fats can cause gases, swelling of the belly or discomfort and abdominal pain.
Because cystic fibrosis also affects sweat glands under the skin, children suffering from it can present skin deposits that look like salt, and parents can feel a salty taste when they kiss them. Also, they can loose abnormal salt quantities when they sweat in warm days.
Cystic fibrosis is the most often cause of pancreas insufficiency in children, and the disease called Shwachman-Diamond Syndrome (SDS) is the second as cause and frequency. The SDS is a genetic malady that causes the body to be incapable of digesting food, because the digestive enzymes do not function correctly. Some of the symptoms of this syndrome are similar to those cystic fibrosis, so the two conditions can be confounded. Still, in case of children with SDS the sweat test is normal.
Because cystic fibrosis produces lots of mucus in the digestive tract, a child with this disease can suffer from symptoms found in nasal congestion, sinus problems, wheezing and asthma. As the fibrosis advances, the child will develop a chronic cough that produces small globes of thick mucus, consistent and lacking color. Also, they can suffer from frequent lungs infections.
Since chronic infections reduce the normal functionality of lungs, the breathing capacity is often deteriorated. A person with cystic fibrosis can reach to the point when she or he feels short of breath, even when resting. Despite aggressive treatment, almost all suffering from this condition will develop pulmonary diseases, which is a common cause for their disability and their short life expectation.
[edit] Treatment in Children with Cystic Fibrosis
After genetic tests during pregnancy, parents can find if the fetus can have cystic fibrosis. But in case these tests confirm the disease, there is no modality of telling before birth if the symptoms the baby will have are going to be mild or severe. Genetic tests can be made after the baby is born as well, and they will also be conducted on parents, brothers and other relatives that plan to have children.
As soon as the infant has been diagnosed with cystic fibrosis, it is possible that he will be required to spend some time in the hospital, depending on his condition. In this case, diagnose tests will be made, especially measuring breathing efficiency and a nutritional evaluation will be made. Before leaving the hospital, the doctor will make sure the lungs are free and that the infant has a diet with vitamins and digestive enzymes that will help him gain weight normally. An additional visit to the doctor will be required every 1 to 3 months, even if the infant or toddler seems healthy.
The base daily care varies from child to child, but it usually includes a lung therapy (treatments that maintain normal functionality of the lungs) and a nutritional therapy (a diet with a high level of calories, fats and vitamin supplements). Children with cystic fibrosis are administrated oral doses of pancreatic enzymes to help them digest better.
Sometimes, oral or inhaled antibiotics are needed to treat infections in the lungs, as well as anti-mucus medication (drugs that make the mucus thinner) to maintain the mucus in the lungs fluid.
A new treatment of cystic fibrosis, that is still under research, is an inhaling spray that contains normal copies of the gene of cystic fibrosis. These normal genes release the correct copy of this gene in the lungs of those affected by the disease. Starting with 1993, hundreds of sick children and young adults were treated this way, and tests are still undergoing.
Another therapy, called the protein repairing therapy, has as a purpose repairing the defective CFTR protein.
