Doctors are able to diagnose individuals with cystic fibrosis prior to birth by genetic testing. The disease can also be diagnosed in early childhood by a sweat test. At this age, prominent symptoms include growth problems or frequent infections, especially infection of the lung. This is a very serious condition, so it is important to know the causes and risk factors thereof.
More about cystic fibrosis
As cystic fibrosis progresses, frequent lung infections as pneumonia often lead to problems breathing, lung damage, prolonged courses of antibiotics, and respiratory failure. After a while, this condition will require ventilator support. CF can also lead to frequent sinus infections, diabetes mellitus, difficulty with digestion, as well as infertility. Currently, most individuals with cystic fibrosis die young, many of them in their 20s and 30s. The most common cause of death is lung failure.
Causes of cystic fibrosis
Cystic fibrosis is caused by a mutation in a gene called the cystic fibrosis trans-membrane-conductance regulator (CFTR). This gene helps create sweat, digestive juices, and mucus. Most people without CF have two working copies of the CFTR gene. However, we need only one gene to prevent cystic fibrosis. That is why CF
Cystic fibrosis is most common among Caucasians and Ashkenazi Jews. Four percent people of European descent carry one gene for cystic fibrosis. Approximately 30,000 Americans have this disease, making it one of the most common fatal inherited diseases in the world.
Cystic fibrosis does not currently have a cure, although the therapy for lung disease considers usage of antibiotics, bronchodilators, physical therapy, nebulized saline, and medication to help break down mucus. Ultimately, lung transplantation or combined lung and pancreas transplantation may be necessary in some cases. The therapy for diabetes is insulin, and sinus infections require antibiotics and surgery. Problems with digestion could be solved by replacing the missing digestive enzymes, supplementing poorly absorbed vitamins, and increasing portion size.
Symptoms and signs of cystic fibrosis
The symptoms of cystic fibrosis depend on the age of individual, prior therapies, and the types of infection a person has had before. Cystic fibrosis affects the entire body and affects the fundamental processes of growth, breathing, digestion, and reproduction. The newborn period might show poor weight gain and intestinal blockage. This problem is most commonly caused by thick stool. Other symptoms of CF manifest during the remainder of childhood and early adulthood, varying from case to case. These problems include continued growth issues, the onset of lung disease, and increasing difficulties with poor absorption of vitamins and nutrients. In addition, difficulties with fertility may become apparent when reproduction needs occur later in life.
In babies and infants, the symptoms of CF are persistent diarrhea, bulky, foul smelling and greasy stools, pale stools, and frequent wheezing or pneumonia. Other common problems include chronic cough with thick mucus, salty-tasting skin, poor growth, blockage of the intestine, and abdominal swelling. Babies could also experience gassiness, vomiting, and dehydration.
In children, symptoms include frequent respiratory infections, fever, cough, difficulty in breathing, abdominal pain and discomfort, and gassiness. Common signs are fast respiration, flaring of the nostrils, poor appetite, malnutrition, poor growth, and a barrel-chested appearance. Cystic fibrosis can also cause other medical problems, such as sinusitis (inflammation of the nasal sinuses), nasal polyps, and clubbing or rounding and enlargement of fingers and toes. The problems could include pneumothorax or rupture of lung tissue and trapping of air between the lung and chest wall, coughing up blood, enlargement of the right side of the heart, protrusion of the rectum through the anus, liver, pancreatic and gallbladder problems.
Later in life, cystic fibrosis patients will more likely experience delayed puberty and reproductive abnormalities, especially male sterility. In fact, over 90 percent of all males with cystic fibrosis are sterile.
Diagnosis of cystic fibrosis
A diagnosis can be achieved in a variety of ways. Some ten percent of cystic fibrosis cases are diagnosed shortly after birth by blood testing done as part of newborn screening programs. These programs look for elevated amounts of the enzyme trypsin. However, most states and countries do not screen for cystic fibrosis routinely. Therefore, most individuals find out they have cystic fibrosis after symptoms prompt an evaluation for this disease.
The most commonly used form of testing for cystic fibrosis is the sweat test. Sweat testing involves application of a medication that stimulates sweating to one electrode of an apparatus, running an electric current to a separate electrode on the skin. This process called iontophoresis causes sweating. The sweat is then collected on filter paper and undergoes analysis. A doctor will look for abnormal amounts of sodium and chloride, since this is what people with cystic fibrosis exhibit in their sweat. Diagnosing for cystic fibrosis could also help the direct identification of mutations in the CFTR gene.
Risk factors of cystic fibrosis
In 1989, researchers found that the defective gene that causes CF disrupts a protein that causes the symptoms of CF. The CFTR gene is inside the cells lining the glands in the respiratory passages, as well as the small intestine, pancreas and sweat glands. CFTR travels to the cell’s surface where it controls the flow of salt in and out of the cell. In cystic fibrosis, the CFTR protein is abnormal in a way that prevents it from reaching the cell’s surface. Without this flowing process, salt is trapped inside the cells. The body tries to compensate by overproducing bodily secretions such as water, sweat, and mucus, but these secretions then build up in the body to cause the symptoms of cystic fibrosis.
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Treatment of cystic fibrosis
An early diagnosis of CF and a comprehensive treatment plan can improve both survival chances and the quality of life for these patients. Specialty clinics for cystic fibrosis may be helpful, and you can find those in many communities. However, there is no treatment to cure cystic fibrosis completely. The treatment’s aim is to prevent and treat lung infections. It also aims to keep the airways and lungs as clear as possible, and improve nutritional status. Treatment of cystic fibrosis includes childhood immunizations, enzymes tablets with meals to improve digestion and absorption of nutrients, insulin shots if the pancreas stops producing it, and high-calorie diets planned by a registered dietician.
A patient should also receive nutritional supplements, including fat-soluble vitamins to improve the condition caused by cystic fibrosis. Chest percussion and postural drainage might help clear the mucus from airways. There are some medications, which keep the airways clear. The most valuable medicines include Theophylline (which is rare today), bronchodilators, steroid inhalers, DNase, acetylcysteine, and non-steroidal anti-inflammatory drugs. Research has shown that the pain reliever ibuprofen may slow lung deterioration in some children with cystic fibrosis. The results were most dramatic in children of 5 -13 years of age.
A patient should also drink plenty of fluids, especially in hot weather or when ill. In some cases, surgery may be required to treat intestinal obstruction. Oxygen therapy may be required as the disease progresses, because of lung failure that might develop with cystic fibrosis. Lung and liver transplants are possible nowadays, and could improve chances of survival. After all, researchers are exploring gene therapy to slow the progression of CF, or even cure it, but still there is no noteworthy result.
In pregnant women, doctors are able to check the amniotic fluid surrounding the fetus. This fluid might undergo some tests for fetal intestinal enzymes. Using a procedure called amniocentesis, a sample of amniotic fluid will be extracted from the amniotic sac. This is the protective covering around the fetus, which undergoes analysis. In a fetus with cystic fibrosis, enzymes will be higher then normal. For newborns, a test called the immuno-reactive trypsinogen test, or IRT, is available.