Normally, the secretions produced by these glands are thin and slippery, and help protect the body's tissues. In people with cystic fibrosis, the secretions are abnormally thick and sticky, so that they don't move as easily.
What Is Cystic Fibrosis?
Instead of acting as lubricants, these thicker secretions may clog tubes, ducts and passageways throughout the body. Cystic fibrosis also causes increased salt in sweat on the skin. Cystic fibrosis affects both males and females; approximately 30, people in the United States have been diagnosed with the condition.
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The greatest risk factor for cystic fibrosis is a family history of the disease, especially if either parent is a known carrier. The gene that causes cystic fibrosis is recessive. This means that in order to have cystic fibrosis, children must inherit two copies of the gene, one from each parent. If a child inherits only one copy, he or she won't develop cystic fibrosis. However, that child will still be a carrier, and might pass the gene on to his or her own children. Parents who carry the cystic fibrosis gene are often healthy and have no symptoms of disease, and yet are still likely to pass it on to their children.
In fact, it's estimated that as many as 10 million people may be carriers of a cystic fibrosis gene and not know it. If both parents carry a defective cystic fibrosis gene, each pregnancy has a 25 percent chance of producing a child with cystic fibrosis.
Chapter VIII.3. Cystic Fibrosis
The cystic fibrosis gene is most common in Caucasians of northern European descent. The disease occurs most frequently in these people, but can occur in any ethnic population.
Parents can be tested to see if they are carriers; however, it's not possible to identify every person who carries a gene for cystic fibrosis. Because there are hundreds of specific cystic fibrosis gene mutations not all of which are known , genetic testing for cystic fibrosis is not percent sensitive.
Doctors can also perform tests during pregnancy so parents can find out whether their child is likely to have cystic fibrosis. However, these tests are also not percent sensitive. Researchers continue working to develop a test for all carriers. Although parents often blame themselves when a child is born with cystic fibrosis, it's important to remember that nothing a parent does causes this disease. The organs most often affected by cystic fibrosis are the lungs and the pancreas, which can lead to breathing and digestive problems.
In a person with cystic fibrosis, mucus is still able to trap bacteria, but it has trouble moving out of the lungs.
As a result, bacteria remain in the lungs, and can cause serious infections. The pancreas is an organ that produces proteins called enzymes, which help the digestion process. In a person with cystic fibrosis, the thick, sticky mucus blocks ducts or paths between the pancreas and the intestines. It prevents enzymes that digest fats and proteins from reaching the intestines. As a result, people with cystic fibrosis have trouble digesting food and getting the vitamins and nutrients they need from it. Because the pancreas controls the level of sugar in the blood, a small percentage of people with cystic fibrosis may also develop type-one diabetes formerly called juvenile or insulin-dependent diabetes.
In some people with cystic fibrosis, the intestines, liver , sweat glands, and reproductive organs are also harmed. The tube connecting the testes and prostate gland can become blocked, leaving many men with cystic fibrosis infertile. However, certain fertility methods and surgical procedures can sometimes make it possible for these men to become fathers.
Although women with cystic fibrosis may be less fertile than other women are, many of them are able to conceive and have successful pregnancies. Bile ducts, which carry bile from the liver and gallbladder to the small intestine, may also become blocked and inflamed. This could cause liver problems, like cirrhosis and portal hypertension. Only a small percentage of people with cystic fibrosis develop these types of problems, however. Cystic fibrosis symptoms can vary from person to person, depending on the severity of the disease.
For example, one child with cystic fibrosis may have respiratory problems but not digestive problems, while another child may have both. In addition, the signs and symptoms of cystic fibrosis may vary with age. In some newborns, the first sign of cystic fibrosis may be that they have difficulty passing their first bowel movement meconium.
This occurs when the meconium becomes so thick that it can't move through the intestines, sometimes causing a blockage. Parents may later notice their baby is not gaining weight or growing normally. The baby's stools may be especially bulky, bad-smelling, and greasy due to poor digestion of fats. People with cystic fibrosis tend to have two to five times the normal amount of salt sodium chloride in their sweat. Parents sometimes notice this symptom of cystic fibrosis first, because they taste the salt when they kiss their child.
Pediatric cystic fibrosis may also have many of these symptoms. Growth delays often continue, and kids with cystic fibrosis tend to be significantly smaller than others their age. They may experience shortness of breath and have difficulty with exercise. Persistent coughing or wheezing is another possible symptom, especially when accompanied by frequent chest and sinus infections with recurring pneumonia or bronchitis.
A child may have very thick phlegm sputum.
Cystic Fibrosis Case Study new
Infants and young children often swallow what they cough up, however, so parents may not be aware of it. Some people with cystic fibrosis develop growths polyps in their nasal passages. They may experience severe or chronic sinusitis, which is inflammation of the sinuses. Their pancreas may become inflamed too; this condition is known as pancreatitis. Clubbing enlargement or rounding of the fingertips and toes eventually occurs in most people with cystic fibrosis, as well.
Cystic Fibrosis Symptoms and Treatment
However, clubbing also occurs in some people born with heart disease and other types of lung problems. Children usually older than age four sometimes have intussusceptions. When this happens, one part of the intestine is displaced into another part of the intestine. The intestine telescopes into itself, similar to a TV antenna being pushed down. Frequent coughing or hard-to-pass stools can occasionally cause rectal prolapse.
This means that part of the rectum protrudes, or sticks out, through the anus. In some cases, rectal prolapse is the first noticeable sign of cystic fibrosis. It's not very common in children without cystic fibrosis, but it does occur. When symptoms begin to show themselves, cystic fibrosis may not be a doctor's first diagnosis. As you've seen, there is a wide variety of cystic fibrosis symptoms, and not every person with cystic fibrosis exhibits all of them. Another factor is that the disease can range from mild to severe in different people.
The age at which symptoms first appear varies as well. Some people with cystic fibrosis were diagnosed as babies, while others are not diagnosed until they are older. If the disease is mild at first, a person with cystic fibrosis may not experience problems until reaching his or her teen years — or even adulthood. Babies are usually tested for cystic fibrosis if they are born with the intestinal blockage mentioned earlier, which is called meconium ileus. In some U. However, the blood test is not as sensitive as a sweat test.
Also referred to as "sweat chloride testing", the sweat test analyzes a person's sweat for its level of salt. To perform the test, a doctor or technician stimulates sweating on a person's body — usually in a small area on the forearm. The doctor or technician does this by applying an odorless sweat-producing chemical to the area, then sending a very weak electric current through an electrode attached there. The mild current stimulates sweating and causes a warm tingling feeling, but does not hurt at all. After several minutes, sweat is collected from the stimulated area and sent to a laboratory for analysis.
The sweat test is performed twice; a consistently high level of salt indicates cystic fibrosis. This test doesn't show whether someone has a mild or severe case of the disease, however, and it can't predict how well someone with cystic fibrosis will do.
The sweat test is the standard diagnostic test for cystic fibrosis, but it may not always be useful in newborns. That's because babies may not produce enough sweat for a reliable diagnosis in the first month of life. For this reason, doctors usually don't perform a sweat test until an infant is at least several months old. In some cases, the doctor may perform a genetic analysis of a blood sample to confirm a diagnosis of cystic fibrosis. Chapter VIII. Cystic Fibrosis treatment initiated during childhood may help counter the bone mineral density bmd loss seen in patients with cf, according to the results of a prospective, open-label observational study of the effects of calcium and vitamin d on bmd in young cf patients, which was followed by a randomized, placebo-controlled trial of the bisphosphonate alendronate.
A2 english media coursework. Phd coursework syllabus. Case Study 14 a result of the complex and multisystemic involvement of cystic fibrosis cf and the need for care by specialists, treatment and follow-up care at specialty centers with multidisciplinary care teams ie, cystic fibrosis centers is recommended. Dissertation assertiveness children doc. Dissertation didactique capes interne.