home :: cystic fibrosis

Cystic Fibrosis -Symptom , Treatment , Testing, Cause and Information of Cystic Fibrosis, and Child Cystic Fibrosis

Cystic fibrosis is the most common, fatal genetic disease-affecting children. It is caused by a mutation of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Cystic fibrosis causes a build-up of thick mucus which leads to infection, inflammation and lung tissue damage.

Cystic fibrosis (CF) is a life-threatening disorder.

In CF, the inherited CF gene directs the body's epithelial cells to produce a defective form of a protein called CFTR (or Cystic Fibrosis Transmembrane Conductance Regulator) found in cells that line the lungs, digestive tract, sweat glands, and genitourinary system. When the CFTR protein is defective, epithelial cells can't regulate the way chloride (part of the salt called sodium chloride) passes across cell membranes. This disrupts the essential balance of salt and water that is needed to maintain a normal thin coating of fluid and mucus inside the lungs, pancreas, and passageways in other organs. The mucus becomes thick, sticky, and hard to move.

Normally, mucus in the lungs traps germs, which are then cleared out of the lungs. But in CF, the thick, sticky mucus and the germs it has trapped remain in the lungs, and the lungs become infected.

In the pancreas, thick mucus blocks the channels that would normally carry important enzymes to the intestines to digest foods.

Symptoms of Cystic Fibrosis

Poor weight gain in spite of a good appetite, usually because of problems with digestion and the absorption of food, especially poor absorption of fats and fat-soluble vitamins (vitamins A, D, E and K)

A swollen belly with gas and discomfort

Repeated lung infections, leading to poor lung function

Wheezing and shortness of breath

Chronic cough, which can produce heavy, discolored mucus or blood

Delayed sexual development

No bowel movements in first 24 to 48 hours of life

Stools that are pale or clay colored foul smelling, or that float

Infants may have salty-tasting skin

Recurrent respiratory infections, such as pneumonia or sinusitis

Diarrhea

Delayed growth

Fatigue

Symptoms of cystic fibrosis usually appear within the first year of life, but sometimes appear in late childhood or adolescence. The severity of symptoms varies from person to person. Some people have severe symptoms involving various organs. Others have a much milder form of the disease involving only one area of the body

Causes of Cystic Fibrosis

Cystic fibrosis is a genetic disorder. Genes are the chemical units in every cell that tell cells what functions they should perform and what substances they should manufacture in order to operate normally. Genes can be damaged in a variety of ways. For example, certain chemicals contained in the foods we eat can damage a gene. When that happens, the gene is no longer able to give correct instructions to a cell and the cell does not have the information it needs to produce all the substances it requires to stay healthy. When this happens, a medical problem develops in some part of the body.

Genes are passed down from one generation to the next. A person whose body contains a damaged gene may pass that gene to his or her children. The children may develop the same genetic disorder that the parent had.

Cystic fibrosis is caused by a defect in the gene known as the CFTR gene. The abbreviation CFTR stands for cystic fibrosis transmembrane conductance regulator. The CFTR gene carries instructions for the production of mucus in cells. Mucus is a mixture of water, salts, sugars, and proteins. Its job is to cleanse, lubricate, and protect passageways in the body.

Cells that contain a defective CFTR gene have lost the ability to make mucus properly. The mucus they produce has too little water in it and is thick and syrupy. This mucus does not improve the functioning of passageways in the body. Instead, it causes them to become clogged. Substances that are supposed to pass through passageways, such as air and blood, are unable to flow normally and the symptoms of CF begin to appear.

Diagnosis and Testing of Cystic Fibrosis

Your doctor may suspect cystic fibrosis based on your child's symptoms and medical history, a family history of cystic fibrosis, and the results of a physical examination. To confirm the diagnosis, your doctor will order a sweat test, a painless procedure to diagnose cystic fibrosis by measuring the amount of salt in skin sweat. In newborns, who are too tiny to make enough sweat for a sweat test, a blood test can confirm the diagnosis. Many states now routinely screen newborns for cystic fibrosis.

Other tests use to diagnose cystic fibrosis include:

Upper GI and small bowel series

Measurement of pancreatic function

Chest x ray- A chest X ray takes a picture of your lungs. It can show scarring from inflammation in your lungs.

Sinus x ray- this test may show signs of sinusitis.

Incubation of Cystic Fibrosis

Cystic fibrosis is a lifelong illness that requires constant monitoring. The severity of the illness typically varies over time; with the worsening of symptoms it may require more intense medical treatment.

Prevention of Cystic Fibrosis

There is no way to prevent cystic fibrosis. Screening of family members of a cystic fibrosis patient may detect the cystic fibrosis gene in between 60 and 90% of carriers, depending on the test used. A blood test can detect most, but not all, of the genetic mutations that cause cystic fibrosis.

With each meal or snack, most people with CF need to take capsules that supply the missing pancreatic enzymes and allow proper digestion.

Treatment of Cystic Fibrosis

Treatment for cystic fibrosis depends on the severity of the disease and the body parts involved. Close regular monitoring is essential. Lung disease can be treated with antibiotics, mucus-thinning drugs and chest physical therapy, in which a therapist or family member drums the person's chest and back with cupped hands to help clear mucus from the lungs. Special vests that attach to machines can vibrate the chest, too. In severe cases, a lung transplant may be an option.

Other treatments are being tested, including gene therapy, which involves using an inhaled spray to deliver normal copies of the cystic fibrosis gene to the lungs. Gene therapy is being tested in several medical centers nationwide, but has not been approved for general use. Also, medications are being tested to correct a defective protein, called the CFTR protein.

People with CF also need to have any chest infection treated quickly with antibiotics. The usual childhood vaccinations, such as measles, mumps and rubellaand diptheria, tetanus and whooping cough are important for people with CF, and they should also be vaccinated against flu and pneumococcus to help prevent chest infections.

There is a range of other possible treatments, according to each person's condition. These may include:

Daily oral or inhaled antibiotics to counter lung infection,

Inhaled anti-asthma therapy,

Medicines to relieve constipation or to improve the activity of the enzyme supplements,

Insulin for CF-related diabetes,Medication for CF-associated liver disease,

Oxygen to help with breathing,

Help to overcome fertility problems,

DNAse enzyme replacement therapy

Pain relievers

Postural drainage and chest percussion.

Lung transplant may be considered in some cases.

General Care

Keep your child's immunizations up-to-date. Children who have cystic fibrosis should have all the recommended immunizations in addition to pneumococcal and flu shots.

Encourage your child to lead as normal and active a life as possible.

Exercise is extremely important for people of all ages who have cystic fibrosis. Regular exercise strengthens your heart and lungs.

Seek care from a cystic fibrosis specialty treatment center.

Take part in an organized sport or go to gym.

Encourage your child to eat a high-calorie foods.

Use nutrition supplements. Provide the fat-soluble vitamin supplements and pancreatic enzymes to your child.Use airway clearance techniques, such as postural drainage and chest percussion.

Encourage your child to drink plenty of liquids to help loosen the mucus, especially in the summer when children are active and tend to lose a lot of fluids.

Don't smoke avoid secondhand smoke. Don't allow other people to smoke around your child.

Teach everyone in your family to wash their hands thoroughly before eating, after using the bathroom and other regular activities.

Call The Doctor

It is important to diagnose and treat cystic fibrosis early. Call your doctor if your child:

Has frequent lung infections (pneumonia), colds, an ongoing cough, shortness of breath, or wheezing.

Coughs up mucus that contains blood.

Decreased appetite

Has salty-tasting skin or sweat.

Tires easily during activity.

Has rounded, flat fingertips

Diarrhea and frequent respiratory infections

Call your doctor if you notice following signs and symptoms in newborns:

Failure to grow

Chronic respiratory problems

Frequent bulky, greasy stools.