Cystic fibrosis is a life threatening and severe disease that attacks the lungs and produces nutritional deficiencies. Cystic fibrosis is an inherited disease. Both parents must carry the gene that causes cystic fibrosis in order to pass it on. The disease is usually diagnosed not long after birth, anywhere from a few days to a few months after birth.
Cystic fibrosis affects the glands and the cells responsible for producing moisture such as mucous, sweat, tears, and saliva. In most patients, these cells and glands are slick and slippery. In a patient with cystic fibrosis, the cells produce a sticky and thick substance which begins to cause blockages to the tubes, ducts, and passageways of the body, especially the pancreas and the lungs.
Symptoms and warning signs vary greatly from patient to patient, as does the severity of the cystic fibrosis. In newborns, the first sign of cystic fibrosis may be the inability to pass a normally thick greenish black stool that most babies pass one or two days after birth. In newborns with cystic fibrosis the stool has become too thick and intense to be passed and must be removed. Other signs and symptoms in newborns may include bulky, greasy stools, failure to grow, and frequent, almost constant respiratory infections.
Children and young adults are more likely to experience symptoms such as thick sputum, saltiness of the skin, coughing, wheezing, blocked bowels, foul smelling stools, greasy stools, delayed growth, protrusion of part of the rectum through the anus, enlargement of the fingers and toes, and frequent chest colds, sinus infections, pneumonia, and bronchitis. Saltiness of the skin is often the first sign that parents pick up on as patients with cystic fibrosis have a higher than normal level of salt in their system. Parents kissing their children often clue them into an unusual salt content of the skin.
Thick sputum can be easily missed by parents as young children tend to swallow whatever they cough up. Protrusion on the rectum can be caused either by difficult stool or by chronic coughing.
Cystic fibrosis may also be accompanied by polyps in the nasal passages, cirrhosis of the liver from obstruction of the bile ducts as well as inflammation, and children over the age of 4 years tend to experience displacement of one part of the intestine to another part of the intestine.
Cystic fibrosis is caused by a defective gene passed on by both birth parents that alters a protein responsible for regulating the production of salt and secretions. The secretions released by the body are not fluid like they are in healthy patients, rather they are tick and sticky and actually act more like cement in the body. Fatty acids tend to play a role in patients with cystic fibrosis, although researchers have yet to determine exactly what the role is and how affecting these fatty acids may affect a cystic fibrosis patient. Patients with cystic fibrosis tend to have high levels of the fatty acid arachidonic acids and significantly low levels of docosahexaenic acids.
There is basically only one risk factor associated with cystic fibrosis. Both parents must carry the gene. When two parents carry the gene there is a 25% chance that a child will be born perfectly healthy but a carrier as well, a 25% chance the child will not have the disease nor carry the gene, and a 50% chance the child will have the disease.
Most physicians now offer testing for parents to determine whether or not they are carriers of the cystic fibrosis gene. While cystic fibrosis can not be treated before birth, tests which determine a fetus is carrying the cystic fibrosis gene can help parents make plans and decisions regarding the future.
Children experiencing symptoms will usually undergo a sweat test. This test is designed to make the child sweat so that it can be analyzed. The amount of sodium and chloride are measured in the sweat in order to determine the likelihood of cystic fibrosis. This is a painless test that really requires nothing more than sitting in a hot room with sterile pads attached to the skin to soak up the sweat.
A genetic analysis of the blood can also prove or disprove the presence of cystic fibrosis. This is done when there is a previous family history or an infant or young child is showing signs of developing the disease.
Cystic fibrosis often leads to nutritional complications. The mutated secretions also prevent the proper absorption of Vitamins K, A, D, and E. The blood sugar is also affected as the pancreas is affected by the disease. The pancreas is part of what controls the blood sugar in the body.
Women who are diagnosed with cystic fibrosis may still be able to conceive and carry babies to term, but there are reproductive consequences to the disease. Thickening of mucous membranes means that it can be more difficult to conceive as well as carry a baby to term.
Treatment of cystic fibrosis does not imply a cure. Treatment options can include antibiotics, nutritional therapies, mucous thinning medications, bronchodilators, bronchial airway drainage, pain relievers, and lung transplants. Most patients are made as comfortable as possible and the symptoms are controlled for as long as possible. Research has advanced tremendously since 1989 when the gene was identified and mutated intentionally.
Patients with cystic fibrosis live fuller lives as well as longer lives when they live as close to normally as possible. Overprotection leads to the belief that the illness prevents participation in life, and this is simply not true. Many children with cystic fibrosis play sports, go to school, and love fairly normal lives. Many even go on to complete college and raise children.
Cystic fibrosis videos
Cystic Fibrosis Foundation Video Podcast: Cassalina family
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http://www.youtube.com/v/1yRSCohAUtg
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Histopathology Pancreas--Cystic fibrosis
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http://www.youtube.com/v/f_gydFcNepY
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Cystic Fibrosis
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http://www.youtube.com/v/rXzosl2DL7I
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Find out more by viewing the Human Anatomy page:
Respiratory System
Medication commonly used for these disease:
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