Cystic Fibrosis: An Overview

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Cystic fibrosis (also called CF or mucoviscidosis) is an autosomal recessive genetic disorder that affects most critically the lungs, and also the pancreas, liver, and intestine. It is characterized by abnormal transport of chloride and sodium across an epithelium, leading to thick, viscous secretions. The name refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas that was first recognized in the 1930s. Difficulty in breathing is the most serious symptom and results from frequent lung infections which are treated with antibiotics, therapies and several other medications. Other symptoms, including sinus infections, poor growth, and infertility affect other parts of the body. A breathing treatment for cystic fibrosis, using a mask nebulizer and a ThAIRapy Vest A breathing treatment for cystic fibrosis, using a mask nebulizer and a ThAIRapy Vest CF is caused by a mutation in the gene for the protein cystic fibrosis trans-membrane conductance regulator (CFTR). This protein is required to regulate the components of sweat, digestive juices, and mucus. CFTR regulates the movement of chloride and sodium ions across epithelial membranes, such as the alveolar epithelia located in the lungs. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis due to the disorder's recessive nature. CF develops when neither gene works normally (as a result of mutation) and therefore has autosomal recessive inheritance. CF is most common among Caucasians; one in 25 people of European descent carries one allele for CF. The World Health Organization states that "In the European Union, 1 in 2000–3000 new-borns is found to be affected by CF". Individuals with cystic fibrosis can be diagnosed before birth by genetic testing or by a sweat test in early childhood. Ultimately, lung transplantation is often necessary as CF worsens. -------------------------------------------------

Signs and symptoms
The hallmark symptoms of cystic fibrosis are salty tasting skin, poor growth and poor weight gain despite a normal food intake, accumulation of thick, sticky mucus, frequent chest infections, and coughing or shortness of breath.  Signs and symptoms often appear in infancy and childhood, such as bowel movement obstruction in new-born babies. As the children grow, they must exercise to release the mucus present in the alveoli. Ciliated epithelial cells present in the patient have a mutated protein that leads to abnormally viscous mucus production. The poor growth in children typically presents as an inability to gain weight or height at the same rate as their peers and is occasionally not diagnosed until investigation is initiated for poor growth. The causes of growth failure are multifactorial and include chronic lung infection, poor absorption of nutrients through the gastrointestinal tract, and increased metabolic demand due to chronic illness. In rare cases, cystic fibrosis can manifest itself as a coagulation disorder. A double recessive allele is needed for cystic fibrosis to be apparent. Young children are especially sensitive to vitamin malabsorptive disorders because only a very small amount of vitamin K crosses the placenta, leaving the child with very low reserves. Because factors II, VII, IX, and X (clotting factors) are vitamin K–dependent, low levels of vitamin K can result in coagulation problems. Consequently, when a child presents with unexplained bruising, a coagulation evaluation may be warranted to determine whether there is an underlying disease. Lungs and sinuses

Lung disease results from clogging of the airways due to mucus build-up, decreased mucociliary clearance, and resulting inflammation. Inflammation and infection cause injury and structural changes to the lungs, leading to a variety of symptoms. In the early stages, regular incessant coughing along with...
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