Chromosome 7 and Cystic Fibrosis

Cystic fibrosis is one of the most common genetic disorders. The genes on each chromosome control specific functions of the human body. The gene on chromosome 7 produces a protein called cystic fibrosis transmembrane regulator. Mutation in the DNA level of chromosome 7 leads to the absence of this protein which leads to cystic fibrosis.

Cystic fibrosis is a recessive disease. It means that both copies of the gene must be defective. An affected person will have abnormal cystic fibrosis transmembrane regulator gene on each chromosome 7. Therefore both biological parents must have an abnormal gene. One abnormal copy is inherited from each parent. A person with one normal gene and one abnormal gene is called a cystic fibrosis carrier. Cystic fibrosis carriers do not show any symptoms but they may pass the abnormal gene to their children. Therefore the parents can be either cystic fibrosis carriers or affected themselves.

Cystic fibrosis affects the production and function of cystic fibrosis transmembrane regulator. This disturbs the chloride transfer across cell membranes. As a result, chloride irons build up in the cells of the lungs and other organs. Water stays inside the cells to dilute the chloride and the normal secretions of the organs become thick. Mucus in the exocrine glands becomes thick and sticky. This results in blocks in the pancreas, lungs, liver and other glands. This block leads to cyst formation in glands. This results in cystic fibrosis. Cystic fibrosis causes frequent respiratory infections.

Diagnosis of cystic fibrosis is confirmed by a sweat test or DNA testing. Cystic fibrosis causes the sweat glands to secrete excessive salt. The most common symptoms of cystic fibrosis are coughing and chronic breathing difficulties. This causes repeated lung infections. The lungs and the digestive system are more affected by cystic fibrosis. The symptoms of cystic fibrosis include chronic cough, chest infection, small growth in nose, diabetes, weight loss, pancreatitis, and diarrhea. The treatment of cystic fibrosis includes oral or inhaled antibiotics, corticosteroid tablets, dietary vitamins, anti-asthma therapy and medication.

The Hidden Truth on Cystic Fibrosis Exposed

Cystic Fibrosis (CF) is caused by a genetic defect and is an inherited disease. The disease causes an interference with the body's function of carrying both salt and water to and from the body's cells. This problem will cause a buildup of very thick mucus that leads to clogging up the lungs and the digestive organs. Many people consider cystic fibrosis to be a lung disease but are they are actually unaware that the buildup of mucus can and will affect other organs as well. Cystic Fibrosis can affect: the lungs, the Pancreas, the Liver, the Intestines, the Sinuses and the Reproductive organs.

Cystic fibrosis, unfortunately, happens to be one of the most common inherited genetic disorders and about 1 in every 2500 newborns in the United States is affected. It happens to be most common in both Caucasians and Hispanics, and seldom occurs in those people of either African or Asian descent.

The symptoms of CF will vary depending on the stage of the illness and which organs have been affected.

The earliest symptoms can be: an Increased appetite, Poor growth pattern, very foul-smelling bowel movements that appear to be both very oily and bulky, Salty tasting skin, Frequent coughing attacks, Frequent respiratory infections and Difficulty breathing. As the disease progresses, more advanced symptoms or complications can develop including: an Unexplained weight loss, Diabetes, Pancreatitis, Liver disease and Infertility.

The diagnosis of Cystic fibrosis is accomplished by testing for the presence of those substances or genes found in the blood and from sweat or fetal cells.

During pregnancy, if a couple has reason to believe they might carry the CF gene, the doctor can perform either an amniocentesis or a biopsy of the chorion frondosum at 10-12 weeks of gestation to obtain fetal cells for prenatal diagnosis of chromosomal abnormalities.

In 40 of the 50 states, there are newborn screening tests for Cystic Fibrosis. The test involves taking a blood sample from the heel of the baby's foot before he or she leaves from the hospital. The sample of blood is then sent to be analyzed at a state laboratory and if the results indicate the defective gene, then the infant's physician and the necessary local health agencies will be made aware.

If CF is not detected at birth, it is often diagnosed during the first year or two of the child's life when some of the typical warning signs begin to appear. The traditional test used for determining the presence of cystic fibrosis is the sweat test. In CF, the body is unable to utilize all the salt taken in and the CF patient will usually be excreting larger than the normal amounts of salt in their sweat.

When a sweat test is conducted, small electrodes are placed on skin of the patient so the sweat glands are stimulated. The sweat produced is then collected and sent to a laboratory where they measure the salt content. The sweat test is in no way a painful test and it has been used to help diagnose cystic fibrosis for many years.

At the present time, there is no actual cure for cystic fibrosis. The treatment involves using combination of medications, special diet, exercise and other types of therapy that are designed to control the symptoms and prevent complications from developing.

Specific medications are used to: Prevent and control respiratory infections, Keep the airway open to help with breathing, Loosen and help remove the sticky mucous and Help the body to absorb nutrients from food.

The diet and nutrition plans are prescribed to: Replace essential vitamins that cannot be stored by the patient, Ensure that the calorie intake will meet the high energy demands, Ensure there is adequate nutrient intake for proper growth and development and Replace the salt that is lost through sweat.

An Exercise and therapy program to: Help Strengthen the heart and lungs, Help to Loosen and clear mucus from the lungs, Improve the patient's endurance and overall physical condition and Increase the amount of oxygen that needs to be delivered to tissues.

Cystic Fibrosis cannot be prevented because it is an inherited disease, but the disease can be detected through a simple blood test for the presence of the defective gene. Before a couple plans for a child, if either parent knows or suspect that either one or both might be carriers of the CF defective gene, they should seek out appropriate genetic counseling and determine if they have a risk of passing on CF disease.

CF is caused by a defective gene that is responsible for making a protein that controls the movement of salt and water in and out of all the cells within our bodies.

Each person has two copies of this gene that we received from each of our parents. In some cases, the gene that we receive from our parents is abnormal, but that does not always mean we will develop Cystic Fibrosis. If a person happens to inherit: 2 normal genes, He or she will not develop CF and will not be a carrier. If a person happens to inherit: 1 normal gene and 1 abnormal gene, the He or she will not develop CF but they will carry the defective gene and possibly pass it on to his or her children. If a person happens to inherit: 2 abnormal genes, then He or she will develop the disease.

Not to long any child born with cystic fibrosis, rarely lived beyond their adolescence years. With the advances in medicine, there is more known about the disease now, that was unknown in the past. The new knowledge and advancements has led to improved treatment regimens that now help people with cystic fibrosis to live more active and normal productive lives well into the adult years. People that live with cystic fibrosis have to take extra precautions against any type of infection. They may also need to take digestive system enzymes and certain types of inhaled medications for the rest of their lives.

If your child is diagnosed with Cystic Fibrosis, What can you do?

Your pediatrician will be the best person to provide the care along with the help of specialists, if needed. The doctor will possibly refer you to a local cystic fibrosis center. If there is no local center, you should ask for a referral to a Cystic fibrosis center as these are operated by both physicians and health care professionals, specializing in the disease. The centers are the best equipped to both monitor your child and prescribe treatment based on the most current research. At the center, your child can be seen by a team of specialists that might include both a pulmonologist (lung specialist) and nutritionist.

As a former Respiratory Therapist, I was involved with the treatment of many infants and young children with Cystic Fibrosis. It was very easy to get to know the kids and become attached to them every time they were admitted to the hospital. They always seemed to be eager to see us when we would enter their hospital room, simply because they knew we were there to help them and be their friend. It was almost like being a big brother, little brother or big brother, little sister with one big exception. There was no fighting or arguing, but just a sense of wanting to help them as per the doctor's orders and be their friend as they battled a horrible disease. In some cases, when one of these special kids passed away from the disease, we would go to the funeral, because they had become like a family member.