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An Overview Of The Genetic Disease Cystic Fibrosis

1275 words - 5 pages

Cystic Fibrosis is a hereditary disease that causes abnormalities in the glands of the exocrine system, affecting the respiratory, digestive, and reproductive functions of sufferers. In our body, exocrine glands discharge various bodily secretions into small ducts (tubes), which lead to the outer surface of the skin or to the interior surfaces of such organs as the stomach and small intestine. In individuals with Cystic Fibrosis, these secretions become abnormally thick, blocking essential ducts. For example, thick mucus in breathing passages in the lungs clogs airways and allows multiplication of bacteria, predisposing to infection; and blocking of the ducts of the pancreas causes malabsorbation of fat. Cystic Fibrosis is the most common fatal inherited disease among whites in the United States, occurring in 1 of every 2500 white (1 in 17000 black) babies. 30,000 children and young adults are currently living with this condition in the USA.Cystic Fibrosis is generally diagnosed early in life. Symptoms often recognizable during infancy are: poor weight gain at 4 to 6 weeks; frequent, bulky, foul-smelling, oily stools; protruding abdomen; and slow growth despite large appetite. Soon after, the child will most likely develop regular coughing and wheezing, accompanied by gagging, vomiting, or disturbed sleep. Teenagers most often experience slowed growth, delayed puberty, and declining physical endurance prior to diagnosis. Cystic Fibrosis patients are extremely susceptible to lung disease, and reoccurring pneumonia, bronchitis, atelectasis (lung contractions), enlarged lymph nodes, and sinus infections are the most common traits among CF patients. They have trouble breathing and strong coughs because the mucus blocks the bronchial tubes. The sweat glands of a person with Cystic Fibrosis secrete perspiration containing abnormal amounts of salt, causing easy heat exhaustion, excessive sweating, dehydration, fever, and even formations of salt crystals on the skin.In extreme cases, infants may develop perforation of the intestinal wall or a twisted intestine due to thick stools, and in 20% of untreated children the lining of the large intestine protrudes through the anus, a condition called rectal prolapse. If the disease is allowed to progress, the child may also develop a barrel-shaped chest, and insufficient oxygen may make the fingers clubbed and the skin bluish. Aside from the repeated respiratory infections mentioned earlier, the other most dangerous potential long -term medical threats are liver and pancreas disease. The bile duct of the liver can become clogged, preventing the liver from producing bile and other enzymes essential to digestion. More common is blockage of pancreatic ducts, restricting delivery of critical digestive enzymes to the bowel. When the scarred pancreas can no longer produce enough insulin, type 1, or insulin-dependent diabetes is the result. People with Cystic Fibrosis also often acquire impaired reproductive function....

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