cystic fibrosis

Cystic fibrosis:

Cystic fibrosis is a chronic genetic disorder which affects the respiratory and digestive systems of children and young adults, sometimes involving the sweat glands and reproductive system. On average, those afflicted with CF have life spans of about thirty years

Sufferers of cystic fibrosis lose excessive quantities of salts when they sweat, upsetting the electrolyte balances of the blood and causing abnormal heart rhythms. The loss of salts may also induce a state of shock mucus in the CF sufferer is thick and accumulates in the intestines and lungs, resulting malnutrition, poor growth, frequent respiratory infections and breathing difficulties, leading to permanent lung damage. The resulting lung damage is usually the resulting cause of death for those with CF

Some other medical problems caused by CF include: sinusitis, nasal polyps (fleshy growths inside the nose), clubbing, pneumothorax (rupturing of the cells of lung tissues and the trapping of air between the lungs and chest wall), hemoptysis (coughing of blood), cor pulmonale (enlargement of the right side of the heart), abdominal pain, intestinal gas, rectal prolapse, liver disease, diabetes, pancreatic inflamation, and gallstones

Children should be tested for cystic fibrosis if they have bulky, greasy, and/or excessively foul-smelling bowel movements, frequent wheezing and/or pneumonia, chronic cough including heavy sputum are thick mucus, salty skin, or poor growth. If a baby is born with meconium ileus, an intestinal blockage, the child should be tested for cystic fibrosis. Before the child is bone, testing of the amniotic fluid can determine whether or not the baby has CF

The most widely used CF test is called a sweat test. It tests the amount of sodium chloride in the eccrine secretions. An area of the skin, usually on the forearm, is made to sweat by use of pilocarpine and a mild electric current. The sweat is removed and wrapped in plastic. After thirty to forty minutes and the sweat is analyzed. Higher then average amounts of the salt indicate cystic fibrosis

The sweat test does not work well on infants, since they do not produce large quantities of sweat. The immunoreactive trypsinogen test (IRT) may be used. In this procedure, blood is drawn from the infant two to three days after birth and tested for a protein called trypsinogen. The IRT test must be confirmed by the sweat and other tests

Some people with CF have normal amounts of chlorine in their sweat, and their CF must be diagnosed by testing for the mutated gene. X-rays, lung function tests, sputum cultures, and stool examinations are also used to help diagnoses cystic fibrosis

To have CF, a child must inherit two of the mutated genes; one from each parent. It is not a dominant trait, it is an autosomal recessive genetic disorder. A child born to two CF parents would have a one hundred percent change of having cystic fibrosis him- or herself

Ideally, gene therapy could cure CF in early childhood, or a supplement for the missing or insufficiently produced protein. At this time, neither is an option. However, nasal cells grown in laboratory situations have been cured of CF by introducing the normal gene

Current treatment for cystic fibrosis combines antibiotic therapy and symptomatic treatments for the lungs and digestive tract. For those with advanced CF, lung transplants are sometimes required

Chest therapy consists of bronchial drainage. The patient is positioned to let the mucus drain from the lungs, while the chest or back is percussed and/or vibrated to help dislodge the sticky phlegm. This can be done by hand or with the aid of a mechanical device. Medications used to help breathing are often misted and inhaled. They include bronchodialators, mucolytics (for the mucus), and decongestants. A more recent drug is an inhaled enzyme which phagocytize or 'eats' the cellular material in the mucus. Antibiotics are taken orally, inhaled or by injection to help with infections in the lungs

The problems caused by cystic fibrosis in the digestive system are usually more easily managed than those in the lungs. A well-balenced diet high in protein, low in fat and high calorie, along with supplements of pancreatic enzymes are prescribed. Enemas and mucolygenic agents are used to clear intestinal obstructions

The biochemical abnormality which results in cystic fibrosis results from a mutation in the gene responsible for the code used to produce the protein called CFTR-cystic fibrosis transmembrane regulator. This protein regulates the movement of chloride ions through cellular membranes. When this protein is absent or abnormal, the halt of transmembrane movement of chloride ions, water and mucus in the lungs result. The mutant protein is so from the loss of one phenylalamine amino acid, and is called deltaF508 CFTR, accounting for about three fourths of CF cases. About four hundred other mutations occur to cause the remaining cases